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Causal inference in integrative genomics: exploring de novo mutations and unravelling causal mechanisms via gene regulatory networks in developmental process

Hwang, SeongwonUniversity of Cambridge2024

… the rare disease cohort from the UK's 100,000 Genomes Project (100kGP), which comprises over 10,000 trios, provided an unprecedented opportunity to delve into the genetics of germline mutations. Here, we estimated Single Nucleotide Polymorphism (SNP) heritability of DNM count in offspring, …

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