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...

Podrobná bibliografie
Hlavní autoři:	Zhang, X, Theotokis, PI, Li, N, Wright, CF, Samocha, KE, Whiffin, N, Ware, JS
Médium:	Journal article
Jazyk:	English
Vydáno:	BioMed Central 2024

Podobné jednotky

Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery
Autor: Xiaolei Zhang, a další
Vydáno: (2024-07-01)

Evaluating the use of paralogous protein domains to increase data availability for missense variant classification
Autor: Adam Colin Gunning, a další
Vydáno: (2023-12-01)

Unified inference of missense variant effects and gene constraints in the human genome.
Autor: Yi-Fei Huang
Vydáno: (2020-07-01)

Lamin A/C missense variants: from discovery to functional validation
Autor: Julieta Lazarte, a další
Vydáno: (2021-12-01)

Correction: Unified inference of missense variant effects and gene constraints in the human genome.
Autor: PLOS Genetics Staff
Vydáno: (2021-01-01)

Prioritisation of structural variant calls in cancer genomes
Autor: Miika J. Ahdesmäki, a další
Vydáno: (2017-04-01)

Rare missense variants in the SH3 domain of PSTPIP1 are associated with hidradenitis suppurativa
Autor: David J. Morales-Heil, a další
Vydáno: (2023-04-01)

From prioritisation to understanding: mechanistic predictions of variant effects
Autor: Greg Slodkowicz, a další
Vydáno: (2018-12-01)

Chemoproteogenomic stratification of the missense variant cysteinome
Autor: Heta Desai, a další
Vydáno: (2024-10-01)

AlphaMissense, a groundbreaking advancement in artificial intelligence for predicting the effects of missense variants
Autor: Ming Yi, a další
Vydáno: (2024-03-01)

Predicting valuable missense variants with AlphaMissense in a multiple pulmonary infection patient
Autor: Tianyuan Wang, a další
Vydáno: (2024-02-01)

CVE: an R package for interactive variant prioritisation in precision oncology
Autor: Andreas Mock, a další
Vydáno: (2017-05-01)

Ophthalmic Features in SPA-8 with a Homozygous Missense Variant in the Homeobox Domain of the NKX6-2
Autor: Hidayet Şener, a další
Vydáno: (2022-03-01)

Case Reports: Novel Missense Variants in the Filamin C Actin Binding Domain Cause Variable Phenotypes
Autor: Daniele Velardo, a další
Vydáno: (2022-07-01)

Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50
Autor: Manfred Fliegauf, a další
Vydáno: (2022-08-01)

A Novel Missense Variant in Actin Binding Domain of MYH7 Is Associated With Left Ventricular Noncompaction
Autor: Mahdi Hesaraki, a další
Vydáno: (2022-04-01)

In-domain relation discovery with meta-constraints via posterior regularization
Autor: Chen, Harr, a další
Vydáno: (2012)

FLNC missense variants in familial noncompaction cardiomyopathy
Autor: Jaap I. van Waning, a další
Vydáno: (2019-10-01)

Drug resistance missense mutations in cancer are subject to evolutionary constraints.
Autor: Ran Friedman
Vydáno: (2013-01-01)

TargetMine, an integrated data warehouse for candidate gene prioritisation and target discovery.
Autor: Yi-An Chen, a další
Vydáno: (2011-03-01)

A homozygous missense variant in the YG box domain in an individual with severe spinal muscular atrophy: a case report and variant characterization
Autor: Leping Li, a další
Vydáno: (2023-09-01)

Functional characterization of missense variants affecting the extracellular domains of ABCA1 using a fluorescence-based assay
Autor: Marianne Teigen, a další
Vydáno: (2024-01-01)

Developing a prioritisation framework in an English Primary Care Trust
Autor: Fordham Richard J, a další
Vydáno: (2006-02-01)

Assessing the Utility of ColabFold and AlphaMissense in Determining Missense Variant Pathogenicity for Congenital Myasthenic Syndromes
Autor: Finlay Ryan-Phillips, a další
Vydáno: (2024-11-01)

In silico prioritisation of microRNA-associated common variants in multiple sclerosis
Autor: Ifeolutembi A. Fashina, a další
Vydáno: (2023-03-01)

A framework for exhaustively mapping functional missense variants
Autor: Jochen Weile, a další
Vydáno: (2017-12-01)

Plasminogen missense variants and their involvement in cardiovascular and inflammatory disease
Autor: Teresa Brito-Robinson, a další
Vydáno: (2024-06-01)

Understanding protein structural changes for oncogenic missense variants
Autor: Rolando Hernandez, a další
Vydáno: (2021-01-01)

TSEN54 missense variant in Standard Schnauzers with leukodystrophy.
Autor: Theresa Störk, a další
Vydáno: (2019-10-01)

MVP predicts the pathogenicity of missense variants by deep learning
Autor: Hongjian Qi, a další
Vydáno: (2021-01-01)

In silico prioritisation of candidate genes for prokaryotic gene function discovery: an application of phylogenetic profiles
Autor: Lan Ruiting, a další
Vydáno: (2009-03-01)

Functional impact of missense variants in BRCA1 predicted by supervised learning.
Autor: Rachel Karchin, a další
Vydáno: (2007-02-01)

P641: Application of AlphaMissense prediction to pathogenicity classification of missense variants from clinical exome sequencing
Autor: Xinming Zhuo, a další
Vydáno: (2024-01-01)

Novel SRY-box transcription factor 9 variant in campomelic dysplasia and the location of missense and nonsense variants along the protein domains: A case report
Autor: Carlos A. Calvache, a další
Vydáno: (2022-11-01)

Exploration of rare-missense variant clustering in Mendelian disease-genes
Autor: Waring, AAJ
Vydáno: (2020)

Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia
Autor: Layla Masuda, a další
Vydáno: (2024-08-01)

Making sense of missense: challenges and opportunities in variant pathogenicity prediction
Autor: Ivan Molotkov, a další
Vydáno: (2024-12-01)

DVA: predicting the functional impact of single nucleotide missense variants
Autor: Dong Wang, a další
Vydáno: (2024-03-01)

Interaction of epitopic missense variants of VEGFA with therapeutic monoclonal antibodies
Autor: Md Tamzid Hossain Tanim, a další
Vydáno: (2023-08-01)

Missense variant contribution to USP9X-female syndrome
Autor: Lachlan A. Jolly, a další
Vydáno: (2020-12-01)