Search Results for: Structural Variation Discovery\n(e.g.

The Chemical Synthesis Group is a component of the Chemical Biology Laboratory. This facility provides synthetic chemistry resources and expertise to the NCI Intramural community.The facility’s capabilities include: Providing expertise, consultation, and experience Read More...

The NIH Biowulf Cluster provides researchers with a world-class system to assist in solving complex biomedical problems as diverse as gene variation in worldwide human populations, deep learning to model protein structures, and PET brain Read More...

CREx Monthly Newsletter Learn about the NIH Collaborative Research Exchange (CREx), Core Facilities, Webinars, & More NIH Research Festival The NIH Research Festival highlights the groundbreaking science and the vibrant NIH community driving our Read More...

Biomarker Discovery with Morphological Context:  Changing how tissue specimens are analyzed < https://youtu.be/mVhfZq8ppbc What is Digital Spatial Profiling? GeoMx Digital Spatial Profiler is a novel platform developed by NanoString. Digital Spatial Read More...

Radiation Oncology Branch is part of CCR. Bioinformatics core is a collaborative resource to support ROB branch and provide service to ROB investigators from NCI and other Institutes access to new technologies, bioinformatics, statistical analysis Read More...

The Clinical Support Laboratory offers processing, tracking, and testing of a broad range of clinical samples. Support can begin at the early stages of clinical trial development to aid in developing a comprehensive strategy for Read More...

.contrast_primary_button{margin-bottom: 29.124px;margin-top: 0px;} Established in 2016, CREx is an NIH-exclusive online research resource marketplace designed to increase transparency around the advanced technologies and technical expertise available within the Intramural Research Program (IRP). Read More...

NCI maintains a low temperature repository of implantable in vivo-derived tumors and in vitro-established tumor cell lines from various species, which are available to qualified investigators as a service to the cancer research community. The Read More...

OSTR provides CCR investigators with access to a variety of software licenses for genomic, proteomic, pathway analysis and data visualization tools. These software are funded by OSTR and made available at no cost to CCR Read More...

The CCR Collaborative Bioinformatics Resource (CCBR) is a centrally funded resource group which provides a mechanism for CCR researchers to obtain many different types of bioinformatics assistance to further their research goals. The group has Read More...

The Science and Technology Research Infrastructure for Discovery, Experimentation, and Sustainability (STRIDES) Initiative The STRIDES Initiative aims to help NIH and its institutes, centers, and offices (ICOs) accelerate biomedical research by reducing barriers in utilizing Read More...

Home About the Biophysics Core Biophysics Core Services [tabby title="Instrumentation"] NHLBI Biophysics Core The Biophysics Core Facility: Overview Core Facilities provide scientific resources, cutting-edge technologies and novel approaches to support DIR scientists. Availability of Read More...

CREx News & Updates August 2022 Learn about the NIH Collaborative Research Exchange (CREx), Core Facilities, Webinars, & More Site Spotlight NCATS Functional Genomics Laboratory (FGL) FGL is designed to help NIH Investigators use the latest Read More...

Mass Spectrometry Section of the Collaborative Protein Technology Resource (Bldg. 37) Core Capabilities: Identification of proteins in complexes, organelles, subcellular fractions, or fluids. Global relative protein quantitation. Quantitation by isotopic labeling of cells in culture (SILAC) Read More...

CREx Monthly Newsletter Learn about the NIH Collaborative Research Exchange (CREx), Core Facilities, Webinars, & More New NIH Resource Spotlight The NIH Lab Managers Working Group have developed a new NIH-wide database of cold Read More...

September 8, 2022 crex.nih.gov CREx Monthly Newsletter Learn about the NIH Collaborative Research Exchange (CREx), Core Facilities, Webinars, & More Science & Technology Seminars and Training Events Upcoming Seminars and Educational Opportunities The following Read More...

DTP’s Natural Products Repository is the world’s largest storehouse of natural products. It houses close to >200,000 extracts from samples of more than 70,000 plants and >20,000 marine organisms collected from more than 29 countries, plus extracts Read More...

Our operational objectives are to provide state-of-the-art OMICS technologies in support of the Genetics Branch (GB) investigators and collaborators. Research Services Wet Lab Single cell isolation from fresh, frozen, and FFPE tissue, DNA/RNA extractions Read More...

The Medicinal Chemistry Accelerator (MCA) is a collaborative CCR resource that supports investigators in developing small molecule inhibitors for anticancer drug candidates. While CCR and NCATS have infrastructure to identify initial “hits” through high-throughput screening, Read More...

The OSTR offers cutting-edge technology platforms to the CCR scientific community through centralized facilities. The videos accessed through this page are designed to introduce the various scientific methodologies OSTR makes available through the cores on Read More...

Proteomic Data Common (PDC) represents the NCI’s largest public repository of proteogenomic comprehensive tumor datasets, essentially a Proteogenomic Cancer Atlas. It was developed to advance our understanding of how proteins help shape the risk, Read More...

Back Services: Biophysics Facility offers fluorometers as open-access instruments.  First-time users must complete a short training session before gaining access to the instrument reservation calendar. Location: Building 50, room 3226 Description: Some substances reemit light after Read More...

[embed]https://youtu.be/yTl1Q0D7aZ0[/embed] 10x Genomics' supports multiple cancer research areas from single nucleotide and structural variant detection to single cell whole transcriptome gene expression analysis of thousands of individual Read More...

The CCR Genomics Core is located in Building 41 on the NIH Bethesda campus. The primary goal of the Core is to provide investigators from CCR/NCI and other NIH Institutes access to genomic technologies and Read More...

The Antibody Engineering Program (AEP) is located at the Laboratory of Molecular Biology, which is part of the Center for Cancer Research (CCR), an intramural program at the National Cancer Institute (NCI). AEP focuses on Read More...

The NCI Cloud Resources are components of the NCI Cancer Research Data Commons (CRDC) that bring data and computational power together to enable cancer research and discovery. These cloud-based platforms eliminate the need for researchers Read More...

What is Visium FFPE v2 with CytAssist? Visium FFPE v2 is sequencing-based spatial profiling technology developed by 10x Genomics. This assay can take mouse or human tissue sections on normal glass slides as input and Read More...

The FNLCR Molecular Histopathology Laboratory (MHL) provides comprehensive veterinary pathology support for animal health monitoring, biomarker discovery and validation, drug development, genomics, and proteomics on a cost recovered basis. The MHL is organized into multiple Read More...

The National Cancer Institute (NCI) is developing a national repository of Patient-Derived Models (PDMs) comprised of patient-derived xenografts (PDXs), patient-derived organoids (PDOrg), and in vitro patient-derived tumor cell cultures (PDCs) and cancer-associated fibroblasts (CAFs). These Read More...

The Biophysics Core’s mission is to provide support in the study of macromolecular interactions, dynamics, and stability by offering consultations, training, professional collaborations, and instrument access. General Services Multi-technique molecular interaction studies, Kinetic and Read More...

CREx Monthly Newsletter Learn about the NIH Collaborative Research Exchange (CREx), Core Facilities, Webinars, & More New CREx User Survey The CREx Team is carrying out a CREx User Survey. We would greatly appreciate Read More...

NIH Intramural CryoEM Consortium (NICE) serves intramural investigators in all NIH IC’s. NICE provides access to state-of-the-art Titan Krios cryo-electron microscopes for atomic-resolution structure determination of protein, macromolecular complexes, membrane receptors, cellular organelles, and Read More...

The Chemistry and Synthesis Center (CSC) of the National Heart, Lung, and Blood Institute (NHLBI) provides IRP scientists with targeted imaging probes and chemical tools that help accelerate cell-based assays, in vivo imaging studies, and Read More...

CCR VOLUME Electron Microscopy Core (CVEMC),  formerly known as volume Electron Microscopy (vEM), aims to develop new techniques in volume electron microscopy (vEM) and, in collaboration with CCR Investigators, apply these techniques to research cell Read More...

The CCR Microscopy Core provides NCI investigators access to state-of-the-art imaging tools and techniques, including light sheet fluorescence, high-resolution confocal, multi-photon, and super-resolution microscopy. The mission of the CCR Microscopy Core Facility is to support Read More...

The Advanced Biomedical Computational Sciences (ABCS) group provides technology development, scientific consultation, collaboration and training, research, software development, and high-performance computing support. ABCS encompasses specialized groups focusing on machine learning applied to the interpretation of 2 Read More...

The Spatial Imaging Technology Resource (formerly the Nanoscale Protein Analysis Section of the Collaborative Protein Technology Resource or CPTR) provides expertise and service in state-of-the-art protein analysis technologies to advance CCR research in basic discovery Read More...

In order to meet increasing demands from both NIH intramural and extramural communities for access to a small angle X-ray scattering (SAXS) resource, the Center for Cancer Research (CCR) under the leadership of Drs. Jeffrey Read More...

CREx Monthly Newsletter Learn about the NIH Collaborative Research Exchange (CREx), Core Facilities, Webinars, & More New CREx User Survey The CREx Team is carrying out a CREx User Survey. If you haven’t Read More...

The NIH Center for Human Immunology, Inflammation, and Autoimmunity (CHI) is a trans-NIH resource whose mission is to provide a collaborative hub of advanced translational immunology for NIH clinical and pre-clinical studies. This uniquely structured Read More...

CREx News & Updates November 2021 Learn about the NIH Collaborative Research Exchange (CREx), Core Facilities, Webinars, & More Site Spotlight FACILITY HIGLIGHTS Learn more about services from the NINDS Quantitative Magnetic Resonance Imaging Core. NINDS Read More...

The Mass Spectrometry Unit of the Collaborative Protein Technology Resource uses mass spectrometry for the study of proteins. We perform collaborative experiments with CCR researchers in areas such as: interactomes, quantitative global proteome analyses, and Read More...

Mouse models of human cancer have had a profound impact on our current understanding of the mechanisms of tumorigenesis and the pathways regulated by cancer-related genes. These models hold the promise of serving as critical Read More...

CREx News & Updates July 2021   Learn about the NIH Collaborative Research Exchange (CREx), Core Facilities, Webinars, & More NIH Collaborative Research Exchange (CREx) News Site Spotlight FACILITY HIGHLIGHTS Learn more about services from the NHLBI Read More...

The core provides access to several different state-of-the-art 3D microscopes as well as computers to visualize and process image data. The facility houses equipment for 2D or 3D imaging of fixed and living specimens. High Read More...

The Optical Microscopy Analysis Core (OMAC), formerly known as the Optical Microscopy Analysis Lab (OMAL),  focuses its research and development activities to quantitatively understand the molecular basis of three-dimensional (3D) cell organization, motility, invasion, and Read More...

[tabby title="Home"] About NICE-NIH Intramural CryoEM Consortium  NIH Intramural CryoEM Consortium (NICE) serves intramural investigators in all NIH IC’s. NICE provides access to state-of-the-art Titan Krios cryo-electron microscopes for atomic-resolution structure determination of Read More...

The NCI Genomic Data Commons (GDC) was established by the NCI Center for Cancer Genomics (CCG) to support the receipt, harmonization, distribution, and analysis of genomic and clinical data from cancer research programs. The GDC Read More...

Services: Biophysics Facility offers CD as an open-access instrument.  First-time users must complete a short training session before gaining access to the instrument reservation calendar. Location: Building 50, room 3123 Description: CD spectroscopy measures the difference Read More...

Protein and Metabolite Characterization Core (PMCC), formerly known as the Protein Characterization Lab (PCL),  offers various technologies to CCR investigators to characterize proteins and metabolites. The core develops and applies state-of-the-art analytical technologies, primarily mass Read More...

Back Services: Biophysics Facility offers CD as an open-access instrument.  First-time users must complete a short training session before gaining access to the instrument reservation calendar. Location: Building 50, room 3123 Description: CD spectroscopy measures the Read More...

NISC’s role within NHGRI, and more broadly across NIH, aims to advance genome sequencing and its many applications, with a goal not simply to produce sequence data, but to produce the infrastructure required to Read More...

01/22/2024 - Dear Colleagues, &nbsp;&nbsp; Optical Genome Maps (OGM) provide scaffolding information for large DNA molecules. In this talk, we describe the use of this technology for detecting structural variants and chaining them Read More...

11/09/2022 - Over the past decade the importance of Structural Variation (SV) is becoming more obvious not just for population diversity but also with clear impacts in multiple diseases (e.g. Neurological) as well as cancer.  Read More...

04/15/2025 - What to bring: &nbsp;Laptop capable of connecting to internet via NIH&nbsp; wifi Are you looking to expand the reach of your sequencing to enable what long read technologies can provide?& Read More...

This page uses context taken directly from the Biostar Handbook by Istvan Albert. Remember to activate the class bioinformatics environment. conda activate bioinfo Introduction to Genomic Variation Genomic variations are typically categorized into different classes Read More...

08/10/2020 - Copy Number Variation (CNV) is a type of structural variation in which sections of the genome are duplicated or deleted. Associated with being causal mutations for disease phenotypes, it is important in clinical and Read More...

Genomic variations are typically categorized into different classes and are often denoted with a shortened acronym: SNP, a single nucleotide polymorphism - A change of a single base. INDEL, an insertion or a deletion - Read More...

07/27/2022 - Many recent studies highlighted the improved capability of long-read sequencing to detect structural variation in the human genome. For example, these technologies was also recently utilized to produce the first complete assembly of the Read More...

02/22/2021 - coming Monday we'll be having a guest lecture by Dr. Jian Peng from UIUC. Abstract: Recent advances in functional genomics have enabled large-scale measurements of molecular interactions, functional activities, and the impact of Read More...

04/09/2025 - Game Changers in Computational Drug Discovery

08/06/2024 - This webinar will focus on the data discovery and sharing infrastructure available for librarians and researchers. Demonstrating how technologies like repositories, data catalogs, and standards work together, this webinar will provide needed background on Read More...

10/20/2025 - AI-Driven Spatial Transcriptomics Unlocks Large-Scale Breast Cancer Biomarker Discovery from Histopathology

The computational chemistry and protein modeling team in the Advanced Biomedical Computational Science (ABCS) group provides novel solutions in structural modeling and computational chemistry. Computational scientists in the group collaborate with NCI researchers by using Read More...

02/26/2026 - Scientific discovery is increasingly limited not by data availability, but by our ability to integrate evidence, generate hypotheses, and iteratively test them at scale. Recent advances in foundation models and large language models suggest Read More...

09/17/2025 - The rapid advancement of large language models is enabling a new generation of domain-specific agents capable of reasoning, retrieving, and acting in complex biomedical contexts. In this talk, Dr. Lu present two representative systems: Read More...

05/07/2025 - Join Dr. Eytan Ruppin, NCI investigator in the Center for Cancer Research, as he discusses Path2Space, a new and unpublished deep learning approach that predicts spatial gene expression directly from histopathology slides. Spatial Read More...

03/21/2024 - Context-aware AI implemented to facilitate data discovery and harmonization has significantly accelerated some of the common bottlenecks in the collaborative research process. Pilot work has shows major time and cost savings compared to current Read More...

No summary available.

03/25/2025 - Dr. Ben Raphael will describe computational methods developed in his lab to analyze large-scale biological data related to cancer evolution, genetic variants, and structural variation in cancer genomes. He’ll share combinatorial and statistical Read More...

04/29/2021 - BTEP_April29_2021 Slides Recording Experimental Design Considerations in Variant Analysis Germline vs Somatic WGS vs WES Sample sizes and statistical power WGS/WES Pipelines at NIH Pipeline performance Using Pipeliner for internal and external Read More...

09/28/2020 - Register/Join This webinar is intended for cancer researchers and bioinformaticians who are interested in learning more about the NCI Genomic Data Commons’ (GDC’s) bioinformatics pipelines for data harmonization. The GDC DNA-Seq analysis Read More...

11/14/2018 - Experimental Design Considerations in Variant Analysis Germline vs Somatic WGS vs WES Sample sizes and statistical power WGS/WES Pipelines at NIH Pipeline performance Using Pipeliner for internal and external data Variant QC, Annotation Read More...

05/28/2013 - Nexus Copy Number is a user-friendly desktop application for analysis and visualization of structural variation (copy number, allelic events, and small sequence variations) from CGH and SNP array- and NGS-generated data. The simple and Read More...

07/23/2025 - Harne ing the Power of Tran criptomic for cientific Di covery

06/30/2022 - Experimental Design Considerations in Variant Analysis Germline vs Somatic WGS vs WES Sample sizes and statistical power QC, variant annotation, and analysis considerations Beyond GATK! A survey of variant calling tools The  actual  Best Read More...

03/23/2022 - Please join us on March 23 when Ben Raphael, Ph.D., will present “Quantifying Tumor Heterogeneity Using Single-Cell and Spatial Sequencing.” In this presentation, Dr. Raphael will describe computational approaches to quantify tumor heterogeneity and Read More...

11/04/2021 - Abstract:  Existing human genome assemblies have almost entirely excluded highly repetitive sequences within and near centromeres, limiting our understanding of their organization, evolution, and essential role in chromosome segregation. Now, the first complete, telomere-to-telomere Read More...

11/04/2021 - Meeting Link: https://cbiit.webex.com/cbiit/j.php?MTID=mf0f44a00dfd24b954e3b3574894b21c4 Abstract:  Existing human genome assemblies have almost entirely excluded highly repetitive sequences within and near Read More...

10/12/2018 - Experimental Design Considerations in Variant Analysis Germline vs Somatic WGS vs WES Sample sizes and statistical power WGS/WES Pipelines at NIH Pipeline performance Using Pipeliner for internal and external data Variant QC, Annotation Read More...

01/21/2026 - This one-hour online training offers an overview of the NIH-sponsored Generalist Repository Ecosystem Initiative (GREI) (Dataverse, Dryad, Figshare, Mendeley Data, Open Science Framework, Vivli, and Zenodo), and the role of participating in these repositories Read More...

11/20/2025 - This one-hour online training offers an overview of the NIH-sponsored Generalist Repository Ecosystem Initiative (GREI) (Dataverse, Dryad, Figshare, Mendeley Data, Open Science Framework, Vivli, and Zenodo), and the role of participating in these repositories Read More...

09/25/2024 - Please join us on Wednesday, September 25, 2024, where Gina Kuffel, B.S., and Steph Singleton, M.S., will demo the newly launched Clinical and Translational Data Commons (CTDC).    As the newest addition to NCI's Read More...

The total number of detected transcripts expressed in a cell is dependent on the amount of mRNA in a cell. Cells naturally vary in the total amount of mRNA expressed. However, the chemistry of the Read More...

05/29/2025 - Prostate cancer exhibits significant intratumoral heterogeneity, driving a spectrum of phenotypes ranging from indolent disease to aggressive metastasis, challenging risk stratification and treatment. A key feature of this heterogeneity is clonal diversity, encompassing both Read More...

04/16/2025 - Updated Location: ATRF, Frederick MD, Main Auditorium What to bring: &nbsp;Laptop capable of connecting to internet via NIH wifi For questions or to register, please contact Amy Stonelake ( amy.stonelake@nih.gov ) Read More...

03/13/2025 - UCSC Xena showcases seminal cancer genomics datasets from The Cancer Genome Atlas (TCGA) and the Pan-Cancer Atlas, as well as the Genomic Data Commons, Pan-cancer Atlas of Whole Genomes, and the International Cancer Genome Read More...

07/18/2024 - Long read sequencing holds an advantage over short read sequencing in areas such as structural variant and transcript isoform discovery.  This class will demonstrate long read analysis using Qiagen’s CLC Genomics Workbench, a Read More...

06/22/2022 - Cancer origination and progression is a complex process that can be viewed as a somatic evolutionary progression with clonal cellular expansion(s) driven by accumulation of survival-/evasion-beneficial genomic mutations, alongside constantly changing selective Read More...

01/23/2020 - Experimental Design Considerations in Variant Analysis Germline vs Somatic WGS vs WES Sample sizes and statistical power WGS/WES Pipelines at NIH Pipeline performance Using Pipeliner for internal and external data Variant QC, Annotation Read More...

01/21/2026 - Alzheimer&rsquo;s disease and related dementias (ADRD) remain a major health crisis with profound social and economic burdens. Innovative strategies are needed to identify genetic risk and protective factors, model disease mechanisms, Read More...

05/07/2024 - Presented as part of the Sequencing Strategies for Population and Cancer Epidemiology Studies (SeqSPACE) Webinar Series Dr. Philip Lupo is a professor of pediatrics and hematology-oncology at Baylor College of Medicine. His lab focuses Read More...

06/10/2021 - Meeting Link:  https://cbiit.webex.com/cbiit/j.php?MTID=mc11b56eb7f7e732aa44c78427402dd2e Abstract: Long read, single molecule sequencing from Pacific Biosciences (PacBio) and Oxford Nanopore are revolutionizing Read More...

04/05/2021 - Dear colleagues, We'll be hosting a special guest lecture by Prof. John Moult from UMD. Abstract: Computing the three-dimensional structure of a protein molecule from its amino acid sequence is a long-standing grand Read More...

02/08/2021 - Dear colleagues, Coming Monday, Feb 8th, we'll be having a guest lecture by Prof. Vineet Bafna from UCSD. Abstract: Increase in the number of copies of tumor promoting (onco-) genes is a hallmark Read More...

08/31/2020 - Alternative splicing (AS) and alternative back-splicing (ABS) are essential to understanding the development of cancer and may play a role as a target of personalized cancer therapeutics. However, the existing reference transcriptome annotation databases Read More...

05/19/2020 - UCSC Xena ( xena.ucscedu/) is a web-based visual integration and exploration tool for multi-omic data and associated clinical and phenotypic annotations. Xena showcases seminal cancer genomics datasets from TCGA and the Pan-Cancer Atlas, as Read More...

01/28/2026 - Navigating Risk in Sharing Cancer Data:&nbsp;Sharing cancer data accelerates scientific discovery and promotes innovation across disciplines, which brings complex ethical, legal, and procedural challenges. This panel will share practical experiences; current Read More...

04/03/2025 - DAVID (the Database for Annotation, Visualization and Integrated Discovery) provides a comprehensive set of functional annotation tools for investigators to understand the biological meaning behind large lists of genes acquired from high-throughput assays such Read More...

03/24/2025 - AI Club is a weekly meeting that explores various topics relating to AI and deep learning in biomedical sciences, typically in a seminar, workshop, or journal club format. AI Club is intended to be Read More...

01/29/2025 - Join Dr. Douglas Flora, executive medical director of Oncology Services at St. Elizabeth Healthcare, to explore how artificial intelligence (AI) is revolutionizing cancer care through oncology. This event will cover: key AI terminology,& Read More...

Following normalization, the next step is to find variable features. In most scRNA-seq experiments only a small proportion of the genes will be informative and biologically variable. A subset of cells with high cell to Read More...

05/02/2024 - The explosion of biomedical big data and information in the past decade or so has created new opportunities for discoveries to improve the treatment and prevention of human diseases. As such, the field of Read More...

04/23/2024 - Join Dr. Kai Tan of the Children&rsquo;s Hospital of Philadelphia as he discusses his cutting-edge technology, CytoCommunity, for the supervised and unsupervised discovery of tissue cellular neighborhoods. CytoCommunity offers a powerful Read More...

03/27/2024 - DAVID (the Database for Annotation, Visualization and Integrated Discovery) provides a comprehensive set of functional annotation tools for investigators to understand the biological meaning behind large lists of genes acquired from high-throughput assays such Read More...

Long read sequencing was recently named 2022’s method of the year by Nature Methods . Long read sequencing technologies, those that generate sequence reads with lengths of 10s of kilobases or longer have several advantages over Read More...

RNA-SEQ Overview What is RNASEQ ? RNA-Seq (RNA sequencing), uses next-generation sequencing (NGS) to reveal the presence and quantity of RNA in a biological sample at a given moment. (Wikipedia) Strictly speaking this could be any Read More...

Here, let's change back in the ~/biostar_class/hbr_uhr/hbr_uhr_hisat2 folder. cd $hbr_uhr_hisat2 To align FASTQ files for one sample, we construct the HISAT2 command with the following options Read More...

To align FASTQ files for one sample, we construct the HISAT2 command with the following options. The "-x" flag prompts us to enter the base name (ie. without extension) of genome index. The Read More...

02/21/2017 - This BTEP Workshop will cover the fundamentals and best practices of Exome-Seq analysis, including downstream interpretation of variants using a variety of in-house and NCI-licensed software solutions. There will be hands-on training on CCBR Read More...

Make a new folder hcc1395_hisat2 to store the HISAT2 alignment results. mkdir hcc1395_hisat2 Stay in /data/user/hcc1395_b4b for this exercise. To perform alignment for all samples at once, the parallel Read More...

04/16/2026 - The ability to measure gene expression levels for individual cells (vs. pools of cells) and with spatial resolution is crucial to address many important biological and medical questions, such as the study of stem Read More...

02/12/2026 - The NLM Division of Intramural Research (DIR) is pleased to welcome Tiarn&aacute;n Keenan, MD, PhD, Stadtman Tenure-Track Investigator and Director of the Medical Retina Fellowship Program at the National Eye Institute Read More...

12/02/2025 - The SeqSPACE Planning Committee is pleased to announce a two-part webinar series highlighting the work of four junior investigators selected through our recent call for abstracts. Part 1 will feature presentations by Dr. Jing Dong Read More...

09/09/2025 - This event will be in-person only, with no Webex/hybrid option.&nbsp; We will record the sessions and make them available in the BTEP Video Archive. There is no registration necessary.&nbsp; Read More...

07/25/2025 - Dr. Lee Lancashire is a data scientist with over 20 years of experience in machine learning and statistics, currently serving as Head of Data Science at Every Cure. He earned his PhD specializing in artificial Read More...

07/15/2025 - Single-cell technologies enable the discovery of many novel cell phenotypes, but this growing body of knowledge remains fragmented across the scientific literature. Natural language processing (NLP) offers a promising approach to extract this information Read More...

05/16/2025 - This one-day in-person NIH AI Symposium will bring together researchers from a broad range of disciplines to share their AI-related research, with the goal of disseminating the newest AI research, providing an opportunity to Read More...

This archive contains past and present issues of the &nbsp;BTEP BioInformatics Bulletin. The BTEP Bioinformatics Bulletin features select upcoming bioinformatics events offered across NIH and is distributed monthly via email to the Center Read More...

04/17/2025 - Cardinal Bernardin Cancer Center Virtual Grand Rounds Interested in learning about various cancer indicators, approaches for data integration , and how to leverage data to drive scientific discovery? Then join NCI CBIIT&rsquo;s Read More...

01/08/2025 - This three hour online training will focus on getting started on using QIAGEN&rsquo;s&nbsp; Ingenuity Pathway Analysis (IPA) . IPA enables you to quickly identify biological relationships, mechanisms, pathways, functions and Read More...

Cancer research is a complex and data-intensive field. Cloud computing offers a powerful solution for researchers to store, analyze, and share large datasets efficiently. In this month’s topic spotlight, we will explore cloud resources Read More...

10/16/2024 - Dear Colleagues, &nbsp; Thanks to advances in single-cell genomics, researchers can construct large-scale organ atlases, giving you more accurate ways to study genetic mutations and alterations related to drug responses and disease. These Read More...

07/19/2024 - The molecular mechanisms underlying many types of cancer involve aberrances in trans-acting factors and their binding to cis-regulatory elements to regulate gene expression. Techniques such as ChIP-seq, DNase-seq, and ATAC-seq are commonly used to Read More...

07/12/2024 - We cordially invite you to attend the July Data Sharing and Reuse Seminar featuring Satra Ghosh, Ph.D. As the Director of the Open Data in Neuroscience Initiative and a Principal Research Scientist at Read More...

07/11/2024 - Please join us for this special event featuring three speakers on the topic of Single-Cell Spatial Transcriptomics. George Zaki, Ph.D., Director, Applied Scientific Computing, BACS, The Frederick National Lab for Cancer Research, NCI/ Read More...

06/20/2024 - Dr. Irizarry will share findings demonstrating limitations of current workflows that are popular in single cell RNA-Seq data analysis. Specifically, he will describe challenges and solutions to dimension reduction, cell-type classification, and statistical significance Read More...

06/14/2024 - Data Sharing and Reuse Seminar Series Please join us for the June Data Sharing and Reuse Seminar where Micahel Schatz, Ph.D. will be presenting "BioDIGS: BioDiversity and Informatics for Genomics Scholars. This Read More...

06/11/2024 - Large language models (LLMs) are artificial intelligence (AI) algorithms that employ deep learning and extensive data sets to create new content. LLMs offer many possible applications in the biomedical field, such as the development Read More...

06/06/2024 - The Brooks Lab developed a computational tool called FLAIR (Full-Length Alternative Isoform Analysis of RNA) to produce confident transcript isoforms from long-read RNA-seq data with the aim of alternative isoform detection and quantification. With Read More...

Much like pseudobulk differential expression, the RNA expression can be collapsed into pre-defined components, such as the clusters, if it is believed that cell-to-cell variation is inducing too much confusion in the labeling. This collapsing Read More...

Transformed data will be available in the SCT assay, which is set as the default after running sctransform. During normalization, we can also remove confounding sources of variation, for example, mitochondrial mapping percentage The glmGamPoi Read More...

It is next standard to scale and center the features in the data set prior to dimension reduction or visualization via heatmap. Scaling the data will keep highly expressed genes from dominating our analysis. This Read More...

To look at how these metrics correlate, we can use FeatureScatter() , which can be used to visualize feature-feature relationships and also be applied to other data stored in our Seurat object (e.g., metadata columns, Read More...

05/15/2024 - To register to attend, you must log in to your SITC Cancer Immunotherapy CONNECT account. Don&rsquo;t have an account?&nbsp; Create a free one . Join Dr. Karchin of the Johns Read More...

The Advanced Biomedical Computational Science (ABCS) group focuses on applications of bioinformatics, computational and data science, and artificial intelligence to support NCI researchers. ABCS provides: • Subject matter expertise in genomics, proteomics, and imaging. • Machine learning/ Read More...

03/13/2024 - Dear Colleagues, &nbsp;&nbsp; UCSC Xena is a web-based visual integration and exploration tool for multi-omic data and associated clinical and phenotypic annotations. &nbsp; Xena showcases seminal cancer genomics datasets from Read More...

The Bioinformatics Training and Education Program is pleased to announce the Artificial Intelligence in Biomedical Research at NIH Seminar Series . Starting on Feb 29, these monthly events will be recorded and made available in the BTEP Read More...

Reproducibility in science means being able to generate the same experimental / analytical results with a high degree of reliability. This is necessary for research validation, scientific and public trust, innovation, and collaboration. Reproducibility is not Read More...

The filtlowabund_scaledcounts_airways.txt includes normalized and non-normalized transcript count data from an RNAseq experiment. You can read more about the experiment here . You can obtain the data outside of class here . The diffexp_ Read More...

Lesson 5 Exercise Questions: Tidyverse The filtlowabund_scaledcounts_airways.txt includes normalized and non-normalized transcript count data from an RNAseq experiment. You can read more about the experiment here . You can obtain the data outside of Read More...

The filtlowabund_scaledcounts_airways.txt includes normalized and non-normalized transcript count data from an RNAseq experiment. You can read more about the experiment here . You can obtain the data outside of class here . The diffexp_ Read More...

Lesson 2 Exercise Questions: Part 2 (Tidyverse) The filtlowabund_scaledcounts_airways.txt includes normalized and non-normalized transcript count data from an RNAseq experiment. You can read more about the experiment here . You can obtain the data outside Read More...

The filtlowabund_scaledcounts_airways.txt includes normalized and non-normalized transcript count data from an RNAseq experiment. You can read more about the experiment here . You can obtain the data outside of class here . The diffexp_ Read More...

This page uses content directly from the Biostar Handbook by Istvan Albert. Learning objectives: 1. Understand what a sequence alignment is and how different algorithms can effect alignments. 2. Learn how scoring matrices and gap penalties (gap Read More...

Lesson 13: Aligning raw sequences to reference genome Before getting started, remember to be signed on to the DNAnexus GOLD environment. Lesson 11 Review In Lesson 11 we learned to aggregate multiple FASTQC reports into one using MultiQC, Read More...

Lesson 13: Aligning raw sequences to reference genome Before getting started, remember to be signed on to the DNAnexus GOLD environment. Lesson 11 Review In Lesson 11 we learned to aggregate multiple FASTQC reports into one using MultiQC, Read More...

Listed below are the video recordings of past BTEP events (classes, seminars, workshops). Videos are hosted on various servers and may play slightly differently. Some videos may be downloaded for local viewing. Recorded Videos of Read More...

10/24/2024 - NIH Text Mining and Natural Language Processing SIG is pleased to welcome you to this special event featuring two extraordinary speakers focused on the applications of Deep Learning in Computational Biology.&nbsp; & Read More...

One particular critique of differential expression in single cell RNASeq analysis is p-value "inflation," where the p-values get so small that there are far too many genes exist with p-values below 0.05, even after Read More...

The FindAllMarkers function is particularly useful in identifying the differentially expressed genes that distinguish several groups, such as seen here in the clusters. What makes this unique is that none of the identities are initially Read More...

Learning Objectives This tutorial was designed to demonstrate common secondary analysis steps in a scRNA-Seq workflow. We will start with a merged Seurat Object with multiple data layers representing multiple samples. Throughout this tutorial we Read More...

1. Introduction and Learning Objectives This tutorial has been designed to demonstrate common secondary analysis steps in a scRNA-Seq workflow. We will start with a merged Seurat Object with multiple data layers representing multiple samples that Read More...