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Functional filter for whole genome sequence data identifies stress impact, non-coding, alternate polyadenylation site variants >5kb from coding DNA

2023-05-14 genetic and genomic medicine Title + abstract only
View on medRxiv
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Despite whole genome sequencing (WGS), why do many single gene disorder cases remain unsolved, impeding diagnosis and preventative care for people whose disease-causing variants escape detection? Early WGS data analytic steps prioritize protein-coding sequences. To simultaneously prioritise variants in non-coding regions rich in transcribed and critical regulatory sequences, we developed GROFFFY, an analytic tool which integrates coordinates for regions with experimental evidence of functionalit...

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