John Sayer (@jasayer.bsky.social)

Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recess... A tailored copy-number variations analysis of genome sequencing trio data shows that biallelic inherited gene deletions are rare, with <i>NPHP1</i> biallelic deletions causing nephronophthisis the lea... https://pubmed.ncbi.nlm.nih.gov/39669628/