Additional file 1: of Systematic characterization of germline variants from the DiscovEHR study endometrial carcinoma population

Figure S1. Bioinformatics workflow for detecting pathogenic variants. Variants are first binned into the 635 genes from TARGET and CGC. They are then carried forward if they meet certain criteria from multiple variant annotation databases (e.g. Clinvar and VEP). Finally, variants with a MAFâ >â 1...

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Hauptverfasser:	Miller, Jason, Raghu Metpally, Person, Thomas, Sarathbabu Krishnamurthy, Venkata Dasari, Shivakumar, Manu, Lavage, Daniel, Cook, Adam, Carey, David, Ritchie, Marylyn, Dokyoon Kim, Gogoi, Radhika
Format:	Video
Sprache:	eng
Schlagworte:	Biological Sciences not elsewhere classified Environmental Sciences not elsewhere classified FOS: Biological sciences FOS: Earth and related environmental sciences FOS: Health sciences FOS: Mathematics Genetics Infectious Diseases Mathematical Sciences not elsewhere classified
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Zusammenfassung:	Figure S1. Bioinformatics workflow for detecting pathogenic variants. Variants are first binned into the 635 genes from TARGET and CGC. They are then carried forward if they meet certain criteria from multiple variant annotation databases (e.g. Clinvar and VEP). Finally, variants with a MAFâ >â 1% In the MyCode cohort, or any total or subpopulation from EXaC, ESP and 1000 genomes. (PPTX 43 kb)
DOI:	10.6084/m9.figshare.8080400