Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery

Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery

: Background: One of the major hurdles in clinical genetics is interpreting the clinical consequences associated with germline missense variants in humans. Recent significant advances have leveraged natural variation observed in large-scale human populations to uncover genes or genomic regions that...

書目詳細資料
Main Authors:	Zhang, X, Theotokis, PI, Li, N, Wright, CF, Samocha, KE, Whiffin, N, Ware, JS
格式:	Journal article
語言:	English
出版:	BioMed Central 2024

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