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