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...
প্রধান লেখক: | Zhang, X, Theotokis, PI, Li, N, Wright, CF, Samocha, KE, Whiffin, N, Ware, JS |
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বিন্যাস: | Journal article |
ভাষা: | English |
প্রকাশিত: |
BioMed Central
2024
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অনুরূপ উপাদানগুলি
অনুরূপ উপাদানগুলি
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Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery
অনুযায়ী: Xiaolei Zhang, অন্যান্য
প্রকাশিত: (2024-07-01) -
Evaluating the use of paralogous protein domains to increase data availability for missense variant classification
অনুযায়ী: Adam Colin Gunning, অন্যান্য
প্রকাশিত: (2023-12-01) -
Unified inference of missense variant effects and gene constraints in the human genome.
অনুযায়ী: Yi-Fei Huang
প্রকাশিত: (2020-07-01) -
Lamin A/C missense variants: from discovery to functional validation
অনুযায়ী: Julieta Lazarte, অন্যান্য
প্রকাশিত: (2021-12-01) -
Correction: Unified inference of missense variant effects and gene constraints in the human genome.
অনুযায়ী: PLOS Genetics Staff
প্রকাশিত: (2021-01-01)