Article

RGnet: Recessive Genotype Network in a Large Mendelian Disease Cohort

2024-12-04

Abstract excerpt

Recessive genotypes, including compound heterozygotes and homozygotes formed by rare variants that impact gene function, affect both alleles and were linked to numerous diseases and traits. However, the underlying patterns and interconnections of these recessive genotypes in large cohorts have rarely been studied. To address this gap, the Recessive Genotype Network (RGnet) was developed. This network model maps va...

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Literature Corpus work: 41d72582-0b29-59a9-8b5c-775a6f072582
DOI: 10.1101/2024.12.02.24318353

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