Article

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

2023-05-14

Abstract excerpt

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...

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Literature Corpus work: ee8a7756-ee20-56dd-8ff5-7938aa123fff
DOI: 10.1101/2023.05.10.23289736

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