Search Results for: rare mutations

05/19/2022 - THIS EVENT HAS BEEN CANCELLED Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma of childhood and are subdivided into three major histomorphologic subtypes: alveolar (ARMS), embryonal (ERMS), or spindle/sclerosing (SSRMS).  Patients with Read More...

03/18/2015 - This workshop will cover basics of exome-seq analysis including downstream interpretation of variants using a variety of open-source and commercial webtools (Golden Helix, IGV, Ingenuity Variant Analysis, GeneGrid (Genomatix), MuPit/Cravat). Day 1 - AM (9:30 Read More...

04/10/2025 - The cost of handling rare and/or late-stage diseases far exceeds preventative strategies. Cell and gene therapies can be quite cost-effective when applied at large population scales (e.g. pandemic vaccines and transfusions).   AI Read More...

VCF files are produced by running a variant caller on one or more BAM alignment files. We will download the ebola genome (AF086833) into a "refs" directory, create a "bwa index" Read More...

06/09/2023 - Dr. Nara Sobreira will present "PhenoDB, a phenotypic and genotypic data sharing tool" at the monthly Data Sharing and Reuse Seminar on June 9, 2023, at 12 p.m. EST. About the Seminar This seminar Read More...

10/14/2021 - The  ISB Cancer Gateway in the Cloud (link is external)  (ISB-CGC) offers multiple avenues for accessing and analyzing large-scale cancer datasets, including TCGA, TARGET, CPTAC and important references such as GENCODE and COSMIC. ISB-CGC Read More...

08/04/2021 - This class introduces mutation types and how to identify the mutations from DNA sequences. Additionally, it describes resources to access information about the impact of variants on proteins associated with drug response guidelines. This Read More...

05/05/2021 - Register Session Description The Human Gene Mutation Database (HGMD) database provides quick access to known published gene lesions responsible for human inherited disease. This session will explore how to query genes and mutations in Read More...

03/24/2021 - WebEx: Register Accurate detection of somatic mutations is challenging but critical to understanding how cancer forms and progresses. Such detection is also critical for targeting more effective treatments. In this seminar, Dr. Mohammad Sahraeian, Read More...

03/03/2021 - Register This class introduces mutation types and how to identify the mutations from DNA sequences. Additionally, it describes resources to access information about the impact of variants on proteins associated with drug response guidelines. 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...

05/07/2020 - This class introduces mutation types and how to identify the mutations from DNA sequences. Additionally, it describes resources to access information about the impact of variants on proteins associated with drug response guidelines. This Read More...

04/02/2020 - This class introduces mutation types and how to identify the mutations from DNA sequences. Additionally, it describes resources to access information about the impact of variants on proteins associated with drug response guidelines. This Read More...

Our Mission The Office of Science and Technology Resources (OSTR) catalyzes the advancement of cancer research through making innovative technologies and scientific resources accessible to scientists at the Center for Cancer Research (CCR). OSTR develops Read More...

Thousands of molecular targets have been measured in the NCI panel of 60 human tumor cell lines. Measurements include protein levels, RNA measurements, mutation status, and enzyme activity levels. You can choose to search for a Read More...

The Bloomington Drosophila Stock Center (BDSC) collects, maintains, and distributes genetically defined strains of Drosophila melanogaster for research and education. The BDSC supports a large, worldwide community of scientists using Drosophila as a model organism Read More...

2024 Date: Tuesday, October 15, 2024 Time and Location: 11 am EST, ZOOM (INVITATION BY LMIG LIST SERVER) Speaker: Dr. Diego Presman (U Buenos Aires) Title: “Insights on Glucocorticoid Receptor Activity Through Live Cell Imaging” Summary: Eucaryotic transcription factors ( Read More...

09/22/2022 - The avalanche of easy-to-create genomics data has impacted almost all areas of medicine and science, from cancer patients and microbial diagnostics to molecular monitoring for astronauts in space. In this lecture, new discoveries from Read More...

06/19/2017 - Harvesting the Wealth of TCGA Data The Cancer Genome Atlas (TCGA) is a large-scale study that has catalogued genomic data accumulated from more than 20 different types of cancer including mutations, copy number variation, mRNA Read More...

09/30/2024 - In this webinar, you'll gain insights into the Electronic Medical Record Search Engine (EMERSE). EMERSE is a simple, powerful tool to help researchers like you identify key data within free text clinical notes Read More...

The goal of quality control is to keep only high quality cells (i.e., remove low quality cells (dead or dying cells), cell-free RNA, or doublets). Low quality cells will impact downstream analyses. Take care Read More...

10/25/2023 - Every week, thousands of biomedical research papers are published with a portion of them containing supporting tables with data about genes, transcripts, variants, and proteins. For example, supporting tables may contain differentially expressed genes Read More...

Generating VCF Files (Simulated data) VCF files are produced by running a variant caller on one or more BAM alignment files. We will download the ebola genome (AF086833) into a "refs" directory, create Read More...

11/30/2022 - This lecture will present an overview of various open-source databases and servers available that support pharmacogenomics research and drug discovery. Specifically, this lecture will focus on integrated-omics and data-driven approaches for novel drug discovery, Read More...

10/04/2022 - Speaker: Luis G. Carvajal-Carmona, Ph.D. Professor and Auburn Community Cancer Endowed Chair in Basic Science Department of Biochemistry and Molecular Medicine UC Davis Health School of Medicine Dr. Luis Carvajal-Carmona is Professor and Read More...

07/14/2022 - Nicholas Navin, Ph.D. Professor, Department of Genetics, Division of Basic Science Research, The University of Texas MD Anderson Cancer Center Grady F. Saunders, Ph.D. Distinguished Professorship for Molecular Biology, Department of Genetics, Read More...

01/11/2022 - Please plan to attend the Earl Stadtman Investigator Program search seminar by: Augustin Luna, Ph.D. Harvard Medical School Dr. Luna's research focuses on the analysis of complex biological systems to understand and Read More...

01/07/2022 - Environmental exposures such as smoking are widely recognized risk factors in the emergence of lung diseases including lung cancer and acute respiratory distress syndrome (ARDS). However, the strength of environmental exposures is difficult to Read More...

12/06/2021 - Presenter: Dr. Zemin Zhang is a Professor at Peking University and a Principal Investigator at Biomedical Pioneering Innovation Center (BIOPIC). He obtained his BS from Nankai University and PhD from Penn State University. He Read More...

10/12/2021 - Speaker :  Tali Mazor, Ph.D., Scientist, Knowledge Systems Group, Dana-Farber Cancer Institute Tali Mazor, Ph.D., of the Dana-Farber Cancer Institute will discuss the functions and features of the cBioPortal for Cancer Genomics. This Read More...

10/05/2021 - This course walks through using and applying two popular, freely available genome browsers and how they can help bioinformatics analysis: the University of California Santa Cruz (UCSC) Genome Browser and the Integrative Genomics Viewer ( Read More...

09/14/2021 - OpenCRAVAT is an open source variant annotation and decision support software to support cancer variant and gene prioritization. It offers both command line functionality and a dynamic biologist-friendly GUI, allowing users to install with Read More...

04/27/2021 - Register Session Description This course walks through using and applying two popular, freely available genome browsers and how they can help bioinformatics analysis: the University of California Santa Cruz (UCSC) Genome Browser and the Read More...

04/08/2021 - https://nih-irp-singlecell.github.io/SC-UsersGroup/ Presenter: George Emanuel PhD, Co-founder Vizgen, Director of Technology and Partnerships. Abstract: Biological systems are comprised of numerous cell types, intricately organized to form functional tissues and organs. Cell Read More...

02/18/2021 - Event is free, but registration is required. Register here to attend. Join the Office of Cancer Clinical Proteomics Research (OCCPR) for our 2021 webinar series! Hear from our Clinical Proteomic Tumor Analysis Consortium (CPTAC) scientists Read More...

01/25/2021 - Presenter: Dr. Arjun Raj from the Perelman School of Medicine, UPenn. Abstract:Anti-cancer therapies can often kill the vast majority of tumor cells but a few rare cells remain and grow despite treatment. Non-genetic Read More...

11/04/2020 - This course walks through using and applying two popular, freely available genome browsers and how they can help bioinformatics analysis: the University of California Santa Cruz (UCSC) Genome Browser and the Integrative Genomics Viewer ( Read More...

10/07/2020 - QIAGEN’s Ingenuity Variant Analysis (IVA) combines analytical tools and integrated content to help you rapidly identify and prioritize variants by drilling down to a small, targeted subset of compelling variants based on published 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...

09/08/2020 - This course walks through using and applying two popular, freely available genome browsers and how they can help bioinformatics analysis: the University of California Santa Cruz (UCSC) Genome Browser and the Integrative Genomics Viewer ( Read More...

09/02/2020 - This class introduces mutation types and how to identify the mutations from DNA sequences. Additionally, it describes resources to access information about the impact of variants on proteins associated with drug response guidelines. This Read More...

06/17/2020 - This course walks through using and applying two popular, freely available genome browsers and how they can help bioinformatics analysis: the University of California Santa Cruz (UCSC) Genome Browser and the Integrative Genomics Viewer ( Read More...

06/08/2020 - Extensive investigations have revealed intra-genomic variation in somatic mutation rates influenced by the sequence composition, structure, and local chromatin features of the genome. I will review the literature on mechanisms underlying the intra-genome mutational Read More...

06/05/2020 - OpenCRAVAT is a an open source, scalable decision support system to support cancer variant and gene prioritization. It offers both command line functionality and a dynamic biologist-friendly GUI, allowing users to install with a Read More...

03/10/2020 - This course walks through using and applying two popular, freely available genome browsers and how they can help bioinformatics analysis: the University of California Santa Cruz (UCSC) Genome Browser and the Integrative Genomics Viewer ( Read More...

03/10/2020 - This course walks through using and applying two popular, freely available genome browsers and how they can help bioinformatics analysis: the University of California Santa Cruz (UCSC) Genome Browser and the Integrative Genomics Viewer ( Read More...

11/19/2019 - Methods for Characterizing the Activity of Mutational Processes in Cancer The cancer sequencing efforts of the past decade have revealed signatures of the mutational processes shaping cancer genomes. These mutational signatures provide a window 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...

CREx Monthly Newsletter Learn about the NIH Collaborative Research Exchange (CREx), Core Facilities, Webinars, & More. New Resources on CREx NIMH Human Brain Collection Core (HBCC) The HBCC obtains human brain tissue, hair, and blood 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...

CREx News & Updates March 2022 Learn about the NIH Collaborative Research Exchange (CREx), Core Facilities, Webinars, & More Site Spotlight NIA Nonhuman Primate Core The NIA Nonhuman Primate Core supports multi-disciplinary translational aging projects for Read More...

The rapid advancement of single-cell technology has provided new powerful tools to answer many biological questions, such as identifying new or rare cell populations and characterizing the complexities of tumor heterogeneity. Realizing the great potential Read More...

We are a bioinformatics team within the Center for Biomedical Informatics and Information Technology’s (CBIIT’s) Cancer Informatics Branch (CIB)—soon to be referred to as the Informatics and Data Science (IDS) Program. Headed 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...

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...

Back Services: Biophysics Facility offers DSC as an open-access instrument. First-time users must complete training before gaining access to the instrument reservation calendar. Location: Building 50, room 3123 Description: The differential scanning calorimeter measures the constant pressure Read More...

01/07/2016 - REGISTRATION IS FULL FOR THIS WORKSHOP (25 ATTENDEES; 6 WAITLIST) The Cancer Genome Atlas (TCGA) is a large-scale study that has cataloged genomic data accumulated for many different types of cancers, and includes mutations, copy number Read More...

09/29/2025 - Plea e u e thi link to acce overview, regi tration, and other information: http ://event .cancer.gov/nci/od -data-jamboree Childhood cancer i a rare di ea e with ~15,000 ca e diagno ed Read More...

10/16/2024 - Dear Colleagues,   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...

04/01/2024 - Embark on a journey of visionary insights! Join us for the launch of the NEI Informatics & Data-Driven Insights: Seminars & Dialogue Opportunities for Vision Health series, hosted by the National Eye Read More...

Alpha diversity is within sample diversity. When exploring alpha diversity, we are interested in the distribution of microbes within a sample or metadata category. This distribution not only includes the number of different organisms (richness) Read More...

Lesson 7: Course Wrap-Up Learning Objectives Introduce the QIIME2 microbiome workflow for Biowulf Review key concepts Showcase additional plugins QIIME 2 on Biowulf As mentioned previously, QIIME 2 is installed on Biowulf. To see available versions use module Read More...

There are many databases devoted to relating genes and gene products to pathways, processes, and other phenomenon. Again, the following is not meant to be a comprehensive list. Kyoto Encyclopedia of Genes and Genomes (KEGG) Read More...

This page uses content directly from the Biostar Handbook by Istvan Albert. Remember to activate the bioinformatics environment. conda activate bioinfo The jellyfish program is dependent on a program called "gcc" which is Read More...

08/24/2022 - Precision oncology has made significant advances, mainly by targeting actionable mutations and fusion events involving cancer driver genes. Aiming to expand treatment opportunities, recent studies have begun to explore the utility of tumor transcriptome Read More...

04/06/2022 - In this seminar, Dr. Malachi Griffith will: introduce neoantigens, a promising area for cancer immunotherapy and  precision medicine . describe how immunogenomic and bioinformatic approaches are helping to identify neoantigens and therapeutic modalities to target Read More...

06/17/2021 - The intrinsic stochasticity of transcription leads to gene expression variation across cells in a clonal cell population. The expression variation can translate into phenotypic variation that can persist through several rounds of cell division. Read More...

06/09/2021 - The CCR Office of Science and Technology Resources (OSTR) is pleased to host a virtual technology seminar given by Advanced Cell Diagnostics (ACD) and NCI Cores at FNLCR. Presenters: Jyoti Phatak, MS | Advanced Cell Read More...

05/26/2021 - Register This month’s Cancer Genomics Cloud (CGC) webinar welcomes Dr. Wenming Xiao, a lead bioinformatics scientist at the U.S. Food and Drug Administration. Dr. Xiao specializes in researching how computational, technical, and Read More...

05/19/2021 - Register Description: IPA’s Analysis Match Explorer was launched in March 2020 and this upgrade is being evaluated for purchase by NCI. NCI scientists will have no-charge access to Analysis Match Explorer for a limited Read More...

05/13/2021 - Meeting Link The slides and recording of the webinar will be available within a day of the event. Heterogeneity poses a major challenge in translational research. For example, inter-tumor heterogeneity limits the biomarker discovery Read More...

02/17/2021 - Speaker is Dr. Michal Linial from the Hebrew University of Jerusalem, Israel. Abstract: Incredible progress has also been made in the field of cancer genetics with the sequencing and molecular profiling of tens of Read More...

01/04/2021 - Abstract: Phenotypic heterogeneity in cancer is often caused by different patterns of genetic alterations. Understanding such phenotype-genotype relationships is fundamental for the advance of personalized medicine. In this talk, I will present a computational Read More...

09/21/2020 - Join Meeting The Surgery Branch (SB) of the National Cancer Institute (NCI) is a combined laboratory and clinical research unit devoted to the development of innovative cancer immunotherapies. Efforts run the gamut from basic Read More...

11/14/2017 - The CCR Office of Science and Technology Resources (OSTR), along with the Bioinformatics Training and Education Program (BTEP), are pleased to organize this event for the CCR scientific community. The primary goal of single Read More...

05/22/2017 - Driven by the decreasing costs and increasing performance of next-generation sequencing (NGS) technologies, the amount of available genomic data has grown exponentially in recent years.  While most of the analyses of these data is Read More...

03/08/2016 - BTEP Workshop on Exome-Seq Data Analysis and Variant Annotation (2-day) This workshop will cover the basics and best practices of exome-seq analysis including downstream interpretation of variants using a variety of in-house, open-source and Read More...

06/02/2015 - This workshop will cover some basic concepts involved in the integration of different types of NGS data in order to obtain a better overall picture of the underlying biology. Specifically, the course will examine Read More...

There are many databases devoted to relating genes and gene products to pathways, processes, and other phenomenon. Again, the following is not meant to be a comprehensive list. Kyoto Encyclopedia of Genes and Genomes (KEGG) Read More...

BAM Slicing Download Slice individual BAM files based on the variant, gene, position, or SNPs for individual cases/entities Download unmapped reads from a BAM file Clinical Data Analysis Visualize clinical data with histograms, survival Read More...

The cBioPortal for Cancer Genomics is an open-access, open-source resource for interactive exploration of multidimensional cancer genomics data sets. The cBioPortal significantly lowers the barriers between complex genomic data and cancer researchers who want rapid, Read More...

The NCI High-Throughput Imaging Facility (HiTIF) works in a collaborative fashion with NCI/NIH Investigators by providing them with the necessary expertise, instrumentation, and software to develop and execute advanced High-Throughput Imaging (HTI) assays. These 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...

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 December 2021 Learn about the NIH Collaborative Research Exchange (CREx), Core Facilities, Webinars, & More Site Spotlight FACILITY HIGLIGHTS Learn more about services from the STRIDES Initiative. VIEW STRIDES INITIATIVE NIH Cores 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...

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...

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...

Lesson 5: Microbial diversity, alpha rarefaction, alpha diversity Learning Objectives Understand the difference between alpha and beta diversity Introduce several alpha diversity metrics Understand what rarefaction is and why it is important Introduce the debate regarding Read More...

Gene ontology and pathway analysis Objectives Determine potential next steps following differential expression analysis. Tour geneontology.org and understand the three main ontologies. Learn about different methods and tools related to functional enrichment and pathway 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...

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...

03/18/2014 - The Cancer Genome Atlas (TCGA) is a large-scale study that has catalogued genomic data accumulated from more than 20 different types of cancer including mutations, copy number variation, mRNA and miRNA gene expression, and DNA Read More...