Article

Identification and prioritisation of causal variants in human genetic disorders from exome or whole genome sequencing data

2017-10-29

Abstract excerpt

With genome sequencing entering the clinics as diagnostic tool to study genetic disorders, there is an increasing need for bioinformatics solutions that enable precise causal variant identification in a timely manner. <h4>Background</h4> Workflows for the identification of candidate disease-causing variants perform usually the following tasks: i) identification of variants; ii) filtering of variants to remove pol...

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Literature Corpus work: 4044d0a1-5075-5506-a704-5b89f6baff4d
DOI: 10.1101/209882

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