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Table 1 Summary of rare pathogenic variant distribution across cohorts

From: Systematic characterization of germline variants from the DiscovEHR study endometrial carcinoma population

 

EMCA

NCC

OHRM

Participantsa

297

2120

1486

Participants with variants after filterb

85 (28.6%)

628 (29.6%)

462 (31.1%)

Genes with variants after filterc

62

211

205

Loci with variantsd

73

485

371

Rare variant burden across participants in each cohorte

99

791

593

  1. Summary level data of participants from WES and rare variant analysis. The total number of participants included in each cohort (a). The total number of participants from “a” that had at least one rare variant that met criteria from Fig. 1 workflow, (b). The number of genes with at least one rare variant that met workflow criteria (c). The number of unique variants present after filtering using the bioinformatics pipeline in Fig. 1 (d). The total number of unique and non-unique rare variants present across the participants in the cohort (e)
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BMC Medical Genomics

ISSN: 1755-8794

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