Automated variant shortlisting powered by inheritance filters - Irene Patric | Corp. Sat. @ESHG2023
Автор: varvis®
Загружено: 2023-06-29
Просмотров: 96
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Automated shortlisting of variants powered by inheritance filters
Irene Patric, Limbus Medical Technologies GmbH
Automating segregation speeds up genomic analysis and reduces digital strain without the risk of losing out significant variant. But how do inheritance filters usually work and what are the pitfalls? The challenges faced in implementing filters, issues that need to be addressed, and how varvis overcomes these will be discussed using clinical examples
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