TCGA数据库maf突变资料官方大全

因为TCGA计划跨时太长,这些年找somatic变异的软件也很多,所以TCGA团队下功夫在计划结束后(April 2018)完整的系统性的整理了最后的somatic突变数据。依托于文章:Scalable Open Science Approach for Mutation Calling of Tumor Exomes Using Multiple Genomic Pipelines March 201810.1016/j.cels.2018.03.002

The Cancer Genome Atlas (TCGA) cancer genomics dataset includes over 10,000 tumor-normal exome pairs across 33 different cancer types, in total >400 TB of raw data files requiring analysis. Here we describe the Multi-Center Mutation Calling in Multiple Cancers project, our effort to generate a comprehensive encyclopedia of somatic mutation calls for the TCGA data to enable robust cross-tumor-type analyses. Our approach accounts for variance and batch effects introduced by the rapid advancement of DNA extraction, hybridization-capture, sequencing, and analysis methods over time. We present best practices for applying an ensemble of seven mutation-calling algorithms with scoring and artifact filtering. The dataset created by this analysis includes 3.5 million somatic variants and forms the basis for PanCan Atlas papers.

The results have been made available to the research community along with the methods used to generate them. This project is the result of collaboration from a number of institutes and demonstrates how team science drives extremely large genomics projects.

纳入的软件

Deposited Data
MC3 Files https://gdc.cancer.gov/about-data/publications/mc3-2017
Software and Algorithms
MuTect https://github.com/broadinstitute/mutect
Pindel https://github.com/genome/pindel
Radia https://github.com/aradenbaugh/radia
VarScan2 http://dkoboldt.github.io/varscan/
SomaticSniper https://github.com/genome/somatic-sniper
MuSE https://github.com/danielfan/MuSE
Indelocator http://archive.broadinstitute.org/cancer/cga/indelocator
Maf2Vcf https://github.com/covingto/vcf2maf/

文章资料下载

GDC Manifests

MAF Files

Reference Files

其它类似研究

TCGA计划是最出名的肿瘤研究计划,其它也有一些优秀者值得关注

Project Method Sample Count (Approx.)
TCGA MC3 exome 10,000
GENIE 44 gene panel 19,000
ICGC PCAWG whole genome 2,800
100,000 Genomes Project whole genome projected: 100,000
CCLE exome 950
Target exome 700
Foundation medicine 306 gene panel 18,000

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