Article

Matching whole genomes to rare genetic disorders: Identification of potential causative variants using phenotype-weighted knowledge in the CAGI SickKids5 clinical genomes challenge

2019-07-18

Abstract excerpt

<h4>ABSTRACT</h4> Precise identification of causative variants from whole-genome sequencing data, including both coding and non-coding variants, is challenging. The CAGI5 SickKids clinical genome challenge provided an opportunity to assess our ability to extract such information. Participants in the challenge were required to match each of 24 whole-genome sequences to the correct phenotypic profile and to identif...

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Literature Corpus work: f76789b2-283b-5c01-88ba-d8855cb0eab3
DOI: 10.1101/707687

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