突变检测软件 测试数据库,TCGA数据库maf突变资料官方大全

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.

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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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