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 Recessive Retinopathy
Genetics in Medicine Open（2024）
Key words
Genome sequencing,CNV analysis,nephronophthisis,NPHP1,OTOA,whole gene deletion,segmental duplications,retinopathy,rod-cone dystrophy,Genomics England
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