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Search Results for: Splice variants

Total Results Found: 112

Total Results Found: 112

Publications

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Confocal

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...

Bioinformatics for Beginners 2022: Things to consider:

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Bioinformatics

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...

Clinical Pharmacology Program (CPP): Pharmacogenetics Section
Bethesda, MD

Core Facility

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...

Exome Sequencing Data Analysis

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Bioinformatics

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...

Exome Sequencing Data Analysis

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Bioinformatics

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...

Bioinformatics for Beginners 2022: Alignment

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Bioinformatics

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...

Mapping Tumor Heterogeneity Across Space and Time

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Bioinformatics

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...

Data Wrangling with R: Filtering across columns

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Bioinformatics

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...

Bioinformatics for Beginners 2022: Lesson 14 Practice

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Bioinformatics

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...

February 2023 Newsletter

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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...

10X Genomics

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[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...

CCR Sequencing Facility
Frederick, MD

Core Facility

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...

January 2023 Bulletin

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Bioinformatics

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...

Example Use Cases for Harmonized Data in the GDC

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Bioinformatics

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...

NIH Intramural Sequencing Center (NISC)
Rockville, MD

Trans NIH Facility

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...

NCI Patient-Derived Models Repository (PDMR)
Bethesda, MD

Collaborative

Repositories

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...

NCI Genomic Data Commons (GDC)
Bethesda, MD

Repositories

Trans NIH Facility

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...

October 2021

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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 Advanced Biomedical Computational Science (ABCS) Group

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Bioinformatics

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...

Bioinformatics for Beginners 2022: RNA-SEQ Overview

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Bioinformatics

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...

Bioinformatics for Beginners 2022: B4b 2022 rnaseq jw

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Bioinformatics

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...