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Search Results for: Variants

Total Results Found: 117

Total Results Found: 117

VARIANT SELECTION IN GENOMIC DNA SEQUENCES

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Bioinformatics

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...

Variant Selection in Genomics DNA Sequences

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Bioinformatics

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...

Variant Selection in Genomic DNA Sequences

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Bioinformatics

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...

Variant Selection in Genomic DNA sequences

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Bioinformatics

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...

Variant Selection in Genomic DNA sequences

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Bioinformatics

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...

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...

Exome Sequencing Data Analysis

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Bioinformatics

07/13/2022 - This training will provide an introduction to exome sequencing data analysis followed by tutorials showing the use of exome analysis workflow and preparing participants to independently run basic exome analysis for variant detection using Read More...

EXOME SEQUENCING DATA ANALYSIS

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Bioinformatics

06/28/2021 - This training will provide an introduction to exome sequencing data analysis followed by tutorials showing the use of exome analysis workflow and preparing participants to independently run basic exome analysis for variant detection using Read More...

NCI Genomic Data Commons DNA-Seq Data Processing

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Bioinformatics

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...

Exome Sequencing Data Analysis

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Bioinformatics

06/26/2020 - This training will provide an introduction to exome sequencing data analysis followed by tutorials showing the use of exome analysis workflow and preparing participants to independently run basic exome analysis for variant detection using Read More...

Whole Exome Sequencing Data Analysis Workshop

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Bioinformatics

06/23/2020 - This training will provide an introduction to exome sequencing data analysis followed by tutorials showing the use of exome analysis workflow and preparing participants to independently run basic exome analysis for variant detection using 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...

Bold Predictions for Human Genomics by 2030

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Bioinformatics

09/16/2021 - As a continuation of the NHGRI seminar series focused on the “Bold Predictions for Human Genomics by 2030,” please join us for the seventh seminar in the series on Thursday, September 16 from 3:00 – 4:30 pm ET. This Read More...

Introduction to Galaxy-P multi-omics

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Bioinformatics

06/28/2020 - The overarching goal of our work is to implement data analysis and informatics tools for integration of biological mass spectrometry data (proteomics and metabolomics) with genomic / transcriptomic information to advance cancer research. We are 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...

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...

Publications

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Confocal

2024 Coutinho, L. L., Femino, E. L., Gonzalez, A. L., Moffat, R. L., Heinz, W. F., Cheng, R. Y. S., Lockett, S. J., Rangel, M. C., Ridnour, L. A. & Wink, D. A. NOS2 and 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...

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...

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...

Long Read Sequencing for Cancer Genomics and Beyond

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Bioinformatics

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...

Introduction to UCSC Xena

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Bioinformatics

05/26/2021 - Register Description: This webinar will highlight UCSC Xena's newest features including genome-wide differential gene expression analysis, violin plots, and a simpler way to filter and subgroup. UCSC Xena ( http://xena.ucsc.edu/ ) is Read More...

The footprints of evolution in cancer proteome

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Bioinformatics

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...

Galaxy for Immunological and Infectious Disease Research

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Bioinformatics

09/04/2020 - Speakers: Dave Clements, Galaxy Community Manager, Johns Hopkins University, Steven Weaver, Senior Programmer Analyst, Temple University Galaxy is an open web-based platform for data integration and analysis in the life sciences. Galaxy makes sophisticated Read More...

Introduction to OpenCRAVAT

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Bioinformatics

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...

Finishing the human genome

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Bioinformatics

06/01/2020 - After nearly two decades of improvements, the current human reference genome is the most accurate and complete vertebrate genome ever produced. However, no one chromosome has been finished end to end, and hundreds of Read More...

Introduction to UCSC Xena

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Bioinformatics

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...

BTEP: Variant Analysis using Genomatix GeneGrid

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Bioinformatics

10/26/2018 - Variant Analysis using Genomatix GeneGrid ** please bring laptop with Flash installed for the hands-on portion of this demo Susan M. Dombrowski, PhD and Peter Grant, Genomatix, Inc. Genomatix GeneGrid is a variant annotation and Read More...

Pathway Analysis with MetaCore

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Bioinformatics

11/13/2017 - MetaCore™ is an integrated curated knowledge database and software suite for pathway analysis of experimental data and gene lists. The scope of data types includes microarray and sequence-based gene expression, SNPs and CGH arrays, Read More...

UCSC Xena: A Tool to Interactively View Cancer Data

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Bioinformatics

09/27/2017 - UCSC Xena ( http://xena.ucsc.edu ) is a web-based, visual exploration tool for all modes of multi-omic data and associated annotations. Xena has several seminal cancer datasets pre-loaded and ready for visualization including TCGA, 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...

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...

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...

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CRTP

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