Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.

Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.

Zobrazit další vydání (1)

Variants in the cystic fibrosis transmembrane conductance regulator gene (CFTR) result in cystic fibrosis-a lethal autosomal recessive disorder. Missense variants that alter a single amino acid in the CFTR protein are among the most common cystic fibrosis variants, yet tools for accurately predictin...

Podrobná bibliografie
Hlavní autoři:	Eli Fritz McDonald, Kathryn E Oliver, Jonathan P Schlebach, Jens Meiler, Lars Plate
Médium:	Článek
Jazyk:	English
Vydáno:	Public Library of Science (PLoS) 2024-01-01
Edice:	PLoS ONE
On-line přístup:	https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0297560&type=printable

Podobné jednotky

Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants
Autor: Eli Fritz McDonald, a další
Vydáno: (2024-01-01)

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)

P617: Is it time to switch to AlphaMissense for in silico missense predictions?
Autor: Shruthi Mohan, a další
Vydáno: (2024-01-01)

The performance of AlphaMissense to identify genes influencing disease
Autor: Yiheng Chen, a další
Vydáno: (2024-10-01)

Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance
Autor: Amina Kurtovic-Kozaric, a další
Vydáno: (2024-12-01)

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)

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

Analysis of AlphaMissense data in different protein groups and structural context
Autor: Hedvig Tordai, a další
Vydáno: (2024-05-01)

AlphaMissense Predictions and ClinVar Annotations: A Deep Learning Approach to Uveal Melanoma
Autor: David J. Taylor Gonzalez, MD, a další
Vydáno: (2025-05-01)

Structural Comparative Modeling of Multi-Domain F508del CFTR
Autor: Eli Fritz McDonald, a další
Vydáno: (2022-03-01)

Heterozygous Cystic Fibrosis Transmembrane Regulator Gene Missense Variants Are Associated With Worse Cardiac Function in Patients With Duchenne Muscular Dystrophy
Autor: Xuan Jiang, a další
Vydáno: (2020-10-01)

Racial inequities and rare CFTR variants: Impact on cystic fibrosis diagnosis and treatment
Autor: Malinda Wu, a další
Vydáno: (2024-06-01)

KIF15 missense variant is associated with the early onset of idiopathic pulmonary fibrosis
Autor: Maria Hollmén, a další
Vydáno: (2023-09-01)

Three-dimensional spatial analysis of missense variants in RTEL1 identifies pathogenic variants in patients with Familial Interstitial Pneumonia
Autor: R. Michael Sivley, a další
Vydáno: (2018-01-01)

Alpha 1 antitrypsin deficiency in non cystic fibrosis bronchiectasis
Autor: Mohamed Shahat Badawy, a další
Vydáno: (2013-04-01)

Biasing AlphaFold2 to predict GPCRs and kinases with user-defined functional or structural properties
Autor: Davide Sala, a další
Vydáno: (2023-02-01)

Protein structure aids predicting functional perturbation of missense variants in SCN5A and KCNQ1
Autor: Brett M. Kroncke, a další
Vydáno: (2019-01-01)

Cystic Fibrosis Polymorphic Variants in a Russian Population
Autor: Kiseleva A, a další
Vydáno: (2020-12-01)

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

Burden of cystic fibrosis in children
Autor: Kathryn Bresnick, a další
Vydáno: (2021-01-01)

Correction: Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Allelic Variants Relate to Shifts in Faecal Microbiota of Cystic Fibrosis Patients
Vydáno: (2013-01-01)

Correction: Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Allelic Variants Relate to Shifts in Faecal Microbiota of Cystic Fibrosis Patients.
Autor: Serena Schippa, a další
Vydáno: (2013-01-01)

The Location of Missense Variants in the Human GIP Gene Is Indicative for Natural Selection
Autor: Peter Lindquist, a další
Vydáno: (2022-06-01)

Cystic fibrosis and alpha-1 antitrypsin deficiency: case report and review of literature
Autor: Evi Jaspers, a další
Vydáno: (2022-05-01)

Variants in the interleukin 8 gene and the response to inhaled bronchodilators in cystic fibrosis
Autor: Larissa Lazzarini Furlan, a další
Vydáno: (2017-11-01)

Variants in the interleukin 8 gene and the response to inhaled bronchodilators in cystic fibrosis
Autor: Larissa Lazzarini Furlan, a další
Vydáno: (2017-11-01)

Current landscape of cystic fibrosis gene therapy
Autor: Lindsey W. Plasschaert, a další
Vydáno: (2024-10-01)

Comparative microbiome analysis in cystic fibrosis and non-cystic fibrosis bronchiectasis.
Autor: Heryk Motta, a další
Vydáno: (2024-05-01)

Cystic fibrosis transmembrane conductance regulator (CFTR): beyond cystic fibrosis
Autor: Giuseppe Fabio Parisi, a další
Vydáno: (2022-05-01)

Variability in disease severity among cystic fibrosis patients carrying residual-function variants: data from the European Cystic Fibrosis Society Patient Registry
Autor: Meir Mei-Zahav, a další
Vydáno: (2025-01-01)

Missense variants in SORT1 are associated with LDL-C in an Amish population
Autor: Kelly A. Mitok, a další
Vydáno: (2023-12-01)

CFTR pathogenic variants spectrum in a cohort of Mexican patients with cystic fibrosis
Autor: Angélica Martínez-Hernández, a další
Vydáno: (2024-04-01)

Two Cases of Cystic Fibrosis with Compound Heterozygous Variants Reported for the First Time
Autor: Sinem Yalçıntepe, a další
Vydáno: (2020-09-01)

Frequency of F508del Variant in Patients with Cystic Fibrosis from Paraguay
Autor: Celeste Vega, a další
Vydáno: (2023-03-01)

Inflammation in Cystic Fibrosis
Vydáno: (1996-01-01)

Vasculitis in Cystic Fibrosis
Autor: Francesca Sposito, a další
Vydáno: (2020-11-01)

Pulmonology: Cystic Fibrosis
Autor: María GARCÍA MORO, a další
Vydáno: (2016-04-01)

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)