Large Pedigree-based WES

[PMID: 26437029] [Nature Genetics]

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

“Here we analyzed 4,125 families with diverse, rare and genetically heterogeneous developmental disorders and identified four new autosomal recessive disorders.” “The transcript with the most severe consequence is selected, and all associated VEP annotations are based on the effect that the variant has on that particular transcript.”  It is the same as what TCGA BRCA landscape paper [PMID:23000897] did.


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