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