Search Results for: Splice variants

11/05/2018 - This introductory lecture will provide an overview of RNA-Seq technology, its various application and shortcomings, as well as detailing the steps involved in analyzing the resulting data. The specific topics covered include: What is Read More...

07/11/2025 - SIG Website : https://oir.nih.gov/ sig s/ long-read Agenda: https://docs.google.com/document/d/1ytKXJa17vRyq9FnooW4Bs9gTiAJbOccZM6XLoI1SAgA/edit?usp=sharing Signup to the mailing list: https://list.nih. Read More...

One of the challenges in analyzing high throughput sequencing is to reconstruct the genome of the unknown by using a knonw (ie. reference). The next step in analysis is to align our sequencing data to Read More...

09/20/2022 - Dr. Mikhail Kolmogorov, Stadtman Investigator, Cancer Data Science Laboratory, NCI (guest of Pedro Batista) will present a lecture: Please join us for a hybrid LCB seminar/webinar via ZoomGov and in Conference Room 37/2041 Meeting Read More...

2025 Sebastian R, Sun EG, Fedkenheuer M, Fu H, Jung S, Thakur BL, Redon CE, Pegoraro G, Tran AD, Gross JM, Mosavarpour S, Kusi NA, Ray A, Dhall A, Pongor LS, Casellas R, Aladjem MI. Mechanism Read More...

STAR 2-pass mode --sjdbGTFfile is the path to the file with annotated transcripts in standard GTF format, STAR extracts splice junctions from this file, improves accuracy of mapping. Using annotations is highly recommended whenever they Read More...

02/27/2020 - The Annotation, Visualization and Impact Analysis (AVIA) is an application developed to guide, prioritize and summarize genomic variants. AVIA maintains and aggregates dozens of publicly available variant annotation databases and predictions from impact analysis Read More...

10/24/2019 - ** Registration is not necessary for members of the public**NIH employees please register**Thank you** Re-assessing the Human Gene Catalog and the Human Genome: How much are we missing?   Steven L. Salzberg, Ph.D. Read More...

In this lesson, we will continue to use the Human Brain Reference (HBR) and Universal Human Reference (UHR) data and we will Learn to align the sequencing data to reference genome using HISAT2, which is Read More...

In this lesson, we will continue to use the Human Brain Reference (HBR) and Universal Human Reference (UHR) data and we will Learn to align the sequencing data to reference genome using HISAT2, which is Read More...

The Pharmacogenetics Core is responsible for correlating outcome observations (toxicity, efficacy, survival, PK/PD) with genetic variants (germline or somatic) to identify key genetic determinants and biomarkers that predict response to specific treatments. We also Read More...

05/21/2019 - This introductory lecture will provide an overview of RNA-Seq technology, its various application and shortcomings, as well as detailing the steps involved in analyzing the resulting data. The specific topics covered include: What is Read More...

02/27/2025 - NGS produces millions of sequences per sample and the challenge is to identify where in the genome each sequence came from. Fortunately, there are aligners that help scientists with this task. After this class, Read More...

07/09/2024 - Galaxy is a scientific workflow, data integration, data analysis, and publishing platform that makes computational biology accessible to research scientists that do not have computer programming experience. This workshop will cover exome sequencing data Read More...

Here, we are going to align the Golden Snidget sequencing files to it's genome. Recall that we are working with RNA sequencing data. Given HISAT2 and Bowtie2 as the options for aligners, which is Read More...

Filtering is done to keep or remove variants to satisfy certain constraints. Make a new directory and download the example data (VCF file and index). This file contains variants in chromosome 19:400kb-500kb mkdir hg19 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...

We were introduced to the hcc1395 RNA sequencing data in Lesson 12 practice session . This study compared the transcriptome of hcc1395 normal and cancer cell lines so it's a normal versus tumor comparison. This dataset Read More...

07/14/2023 - Galaxy is a scientific workflow, data integration, data analysis, and publishing platform that makes computational biology accessible to research scientists that do not have computer programming experience. This workshop will cover exome sequencing data 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...

Alignment RNASeq Mapping Challenges The majority of mRNA derived from eukaryotes is the result of splicing together discontinuous exons, and this creates specific challenges for the alignment of RNASEQ data. Mapping Challenges Reads not perfect 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...

05/21/2019 - This introductory lecture will provide an overview of RNA-Seq technology, its various application and shortcomings, as well as detailing the steps involved in analyzing the resulting data. The specific topics covered include: What is Read More...

05/01/2025 - In this talk, Dr. Stergachis will present data on using Fiber-seq and deaminase-assisted Fiber-seq (DAF-seq) to resolve the functional impact of both germline and somatic genetic variants, as well as to identify somatic epimutations Read More...

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...

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.  & Read More...

02/28/2024 - In this seminar, you'll learn about the somatic variant caller named Lancet. This accurate, open-source tool leverages local assembly and joint analysis of tumor-normal, paired, high-throughput sequence data. New York Genome Center& Read More...

Past versions of dplyr included powerful variants of filter , select , and other functions to help perform tasks across columns. You may see functions such as filter_all , filter_if , and filter_at . Functions like these Read More...

11/21/2023 - Dear Colleagues,    This presentation will provide an overview of OpenCRAVAT.   Annotation and interpretation of cancer variants is critical to the design of personalized molecular therapies, and Read More...

For visualizing the HBR and UHR alignment results, we will use the built in Human hg38 genome. To do this, we will just goto the genome selection box and select hg38 (Figure 2). In Figure 3, we Read More...

Variant annotation means predicting the effects of genetic variants (SNPs, insertions, deletions, copy number variations (CNV) or structural variations (SV)) on the function of genes, transcripts, and protein sequence, as well as regulatory regions. The Read More...

First we will retrieve the Ebola reference genome and put it in the "refs" directory. Next we need to create the index for the aligner (bwa index) and for IGV (samtools faidx). Let' Read More...

Multi-sample variant calling is an extension of single sample variant calling, where all samples are evaluated together, and the presence or absence of a variant is shown for all samples in parallel. We will perform Read More...

Variant normalization involves the simplification of variant representation to follow these rules: * Represent the variant with as few letters as possible. * No allele may be zero length. * Variant must be "left aligned" Some Read More...

Previously, we used the application HISAT2 to align the raw sequencing data from the Human Brain Reference (HBR) and Universal Human Reference (UHR) dataset. We created sorted and indexed alignment output in the form of Read More...

Previously, we used the application HISAT2 to align the raw sequencing data from the Human Brain Reference (HBR) and Universal Human Reference (UHR) dataset. We created sorted and indexed alignment output in the form of Read More...

Your answers to the following questions will dictate many of your choices with respect of the appropriate methodologies to be employed. Which gene are expressed? Which genes are differentially expressed? Are different splicing isoforms expressed? Read More...

Purpose of RNA sequencing and what biological questions can RNA sequencing answer Experimental considerations Sample preparation Replicates Technical noise Read depth More depth for low expression genes More depth for low fold differences Read length Read More...

Purpose of RNA sequencing and what biological questions can RNA sequencing answer Experimental considerations Sample preparation Replicates Technical noise Read depth More depth for low expression genes More depth for low fold differences Read length Read More...

For RNA sequencing studies, we need to use a splice aware aligner to account for reads that map across exons. Bowtie2 is a commonly used aligner for DNA sequencing and is not splice aware. Let' 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...

Lesson 14 Practice Objectives Here, we will practice using the Integrative Genome Viewer (IGV) to visualize the hcc1395 RNA sequencing alignment results. About the data and launching IGV We were introduced to the hcc1395 RNA sequencing Read More...

RSeQC package provides a number of useful modules that can comprehensively evaluate high throughput sequence data especially RNA-seq data. “Basic modules” quickly inspect sequence quality, nucleotide composition bias, PCR bias and GC bias, while “RNA-seq Read More...

First we need to create the indices for Chr22. hisat2-build refs/22.fa refs/22.fa where "refs/22.fa" is the reference genome, and also the prefix we will use for the index created. Read More...

First we need to create the indices for Chr22. hisat2-build refs/22.fa refs/22.fa where "refs/22.fa" is the reference genome, and also the prefix we will use for the index created. Read More...

First we need to create the indices for Chr22. hisat2-build refs/22.fa refs/22.fa where "refs/22.fa" is the reference genome, and also the prefix we will use for the index created. Read More...

For RNA sequencing studies, we need to use a splice aware aligner to account for reads that map across exons. Bowtie2 is a commonly used aligner for DNA sequencing and is not splice aware. Let' Read More...

In this portion of the class, it is very important that you have IGV already opened on your computer. See Figure 1 and Figure 2 on how to load the relevant alignment outputs for HBR_1 and UHR_1 Read More...

06/06/2023 - Dr. Maximilian Haeussler is the co-PI for the  UCSC Genome Browser , an interactive website offering access to genome sequence data from a variety of vertebrate and invertebrate species and major model organisms, integrated with Read More...

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The goals of the Bioinformatics Training and Education Program within NCI/CCR are: To make researchers aware of the bioinformatics resources available to them, To provide training and guidance on these resources regularly and at 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...

The introduction of DNA sequencing instruments capable of producing millions of DNA sequence reads in a single run has profoundly altered the landscape of genetics and cancer biology. Complex questions can now be answered at Read More...

How to download data from the Sequence Read Archive (NCBI/SRA) to your account on NIH HPC Biowulf You will need: active, unlocked Biowulf account (hpc.nih.gov) active Globus account for transferring files OR Read More...

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

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

03/13/2024 - Dear Colleagues,    UCSC Xena 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 Read More...

01/22/2024 - Dear Colleagues,    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...

11/29/2023 - In this seminar, you'll learn about the somatic variant caller named Lancet. This accurate, open-source tool leverages local assembly and joint analysis of tumor-normal, paired, high-throughput sequence data. New York Genome Center& 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...

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...

Which reference genome are we using in this IGV session to view the alignment results for samples hcc1395_normal_rep1 and hcc1395_tumor_rep2? On what chromosome are the sequencing data mapping to? {{Sdet}} Solution{{ 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...

Lesson 14: Visualizing alignment results Before getting started, remember to be signed on to the DNAnexus GOLD environment. Lesson 13 Review Previously, we used the application HISAT2 to align the raw sequencing data from the Human Brain Read More...

After assessing the quality of our raw sequencing data and performing cleanup if necessary the step that follows alignment the raw sequencing data to a genome or transcriptome. What tools can we use? {{Sdet}} Answer{{ Read More...

Let's align an RNA-Seq sample using the "splice aware" aligner hisat2. First we will need to create the indices. Use this format: hisat2-build REFERENCE_GENOME INDEX_PREFIX Like this: hisat2-build Read More...

Let's align an RNA-Seq sample using the "splice aware" aligner hisat2. First we will need to create the indices. Use this format: hisat2-build REFERENCE_GENOME INDEX_PREFIX Like this: hisat2-build Read More...

Let's align an RNA-Seq sample using the "splice aware" aligner hisat2. First we will need to create the indices. Use this format: hisat2-build REFERENCE_GENOME INDEX_PREFIX Like this: hisat2-build Read More...

Lesson 17: RNA sequencing review 2 Learning objectives This lesson will serve as comprehensive review of Module 2. We will spend roughly the first hour reviewing the Module 2 material the second hour answering specific questions from the poll Read More...

Let's start our exploration of sequencing read alignment by discussing the reference genome for human chromosome 22. For this, change into our ~/biostar_class/hbr_uhr/refs folder. In Lesson 9, we discussed why we need Read More...

Let's start our exploration of sequencing read alignment by discussing the reference genome for human chromosome 22. For this, change into our ~/biostar_class/hbr_uhr/refs folder. In Lesson 9, we discussed why we need Read More...

Lesson 13 Practice Objectives In this lesson we learned how to align raw sequencing reads to reference and to process alignment results for downstream analysis. Here, we will test our knowledge by continuing with the Golden Read More...

Lesson 14: Visualizing alignment results Before getting started, remember to be signed on to the DNAnexus GOLD environment. Lesson 13 Review Previously, we used the application HISAT2 to align the raw sequencing data from the Human Brain Read More...

This page contains content taken directly from the Biostar Handbook by Istvan Albert. Always remember to start the bioinformatics environment. conda activate bioinfo We will be analyzing differential expression of genes on Chr22 from the Read More...

This page contains content taken directly from the Biostar Handbook by Istvan Albert. Always remember to start the bioinformatics environment. conda activate bioinfo We will be analyzing differential expression of genes on Chr22 from the Read More...

Let's now take a look at our final differential analysis results table (results_with_gene_names_labeled.txt), using the SLC2A11 gene as an example and below we use the column command to 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...

Bioinformatics Training and Education Program 15 January – 15 February 2023 BTEP Bulletin Contact us at ncibtep@nih.gov FEATURED BIOINFORMATICS EVENTS Data Management Sharing: Part 1 and Part 2 DOE-NCI Collaboration: MOSSAIC for Advancing Computational Models for Cancer Research Variation Read More...

11/14/2022 - During this webinar, the  Genomic Data Commons ’ (GDC’s) Drs. Zhenyu Zhang and Bill Wysocki will review the different types of harmonized data that the GDC makes available for the cancer research community. The Read More...

10/31/2022 - UCSC Xena 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 well as Read More...

10/05/2022 - For our next CDSL webinar we will have presentations by two CDSL fellows:  Ekaterina Kazantseva  and Sanna Madan.  Ekaterina is a master’s student in Dr. Mikhail Kolmogorov's group and the title of 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...

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 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...

CREx News & Updates October 2021 Learn about the NIH Collaborative Research Exchange (CREx), Core Facilities, Webinars, & More NIH Collaborative Research Exchange (CREx) News Site Spotlight FACILITY HIGLIGHTS Learn more about services from the CPTR 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...

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...

Introduction to dplyr and the %>% Objectives Today we will begin to wrangle data using the tidyverse package, dplyr . To this end, you will learn: how to filter data frames using dplyr how to employ 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...

Step 1 for generating bigWig files is to convert the BAM alignment results to a bedGraph (with extension bg) file that contains coverage along genomic regions. Enhancing your vocabulary: BED file - this is also known Read More...

Now that we have downloaded the HBR and UHR dataset and know where analysis tools are, let's start learning about RNA sequencing, by first learning about our reference genome and annotation files. Let's Read More...

Now that we have downloaded the HBR and UHR dataset and know where analysis tools are, let's start learning about RNA sequencing, by first learning about our reference genome and annotation files. Let's 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...

This page contains content taken directly from the Biostar Handbook (Istvan Albert). Always remember to activate the class bioinformatics environment. conda activate bioinfo For this data analysis, we will be using: Two commercially available RNA Read More...

This page contains content taken directly from the Biostar Handbook (Istvan Albert). Always remember to activate the class bioinformatics environment. conda activate bioinfo For this data analysis, we will be using: Two commercially available RNA Read More...

Lesson 16: RNA sequencing review and classification based analysis Before getting started, remember to be signed on to the DNAnexus GOLD environment. Review In the previous classes, we learned about the steps involved in RNA sequencing Read More...

This page uses content directly from the Biostar Handbook by Istvan Albert. Obtain RNA-seq test data. The test data consists of two commercially available RNA samples: Universal Human Reference (UHR) and Human Brain Reference (HBR) . Read More...

Lesson 9: Reference genomes and genome annotations used in RNA sequencing Before getting started, remember to be signed on to the DNAnexus GOLD environment. Lesson 8 Review In Lesson 8, we learned about the basics of RNA sequencing, Read More...

Lesson 9: Reference genomes and genome annotations used in RNA sequencing Before getting started, remember to be signed on to the DNAnexus GOLD environment. Lesson 8 Review In Lesson 8, we learned about the basics of RNA sequencing, Read More...