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Variant interpretation using population databases: Lessons from gnomAD

Human mutation, 2022-08, Vol.43 (8), p.1012-1030

2022

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MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains

Human mutation, 2019-08, Vol.40 (8), p.1030-1038, Article humu.23798

2019

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Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data

American journal of human genetics, 2023-09, Vol.110 (9), p.1496-1508

2023

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Hardy-Weinberg Equilibrium in the Large Scale Genomic Sequencing Era

Frontiers in genetics, 2020-03, Vol.11, p.210-210

2020

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VarSite: Disease variants and protein structure

Protein science, 2020-01, Vol.29 (1), p.111-119

2020

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Comprehensive Analysis of Constraint on the Spatial Distribution of Missense Variants in Human Protein Structures

American journal of human genetics, 2018-03, Vol.102 (3), p.415-426

2018

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Variable population prevalence estimates of germline TP53 variants: A gnomAD‐based analysis

Human mutation, 2019-01, Vol.40 (1), p.97-105

2019

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MotSASi: Functional short linear motifs (SLiMs) prediction based on genomic single nucleotide variants and structural data

Biochimie, 2022-06, Vol.197, p.59-73

2022

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ABCG5 and ABCG8 genetic variants in familial hypercholesterolemia

Journal of clinical lipidology, 2020-03, Vol.14 (2), p.207-217.e7

2020

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Carrier frequency and incidence of alpha-mannosidosis: population database-based study-focus on the East Asian and Korean population

Frontiers in genetics, 2023-12, Vol.14, p.1297543-1297543

2023

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Elevated Leukodystrophy Incidence Predicted From Genomics Databases

Pediatric neurology, 2020-10, Vol.111, p.66-69

2020

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Prevalence estimation of ATTRv in China based on genetic databases

Frontiers in genetics, 2023-04, Vol.14, p.1126836-1126836

2023

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A genome-wide spectrum of tandem repeat expansions in 338,963 humans

Cell, 2024-04, Vol.187 (9), p.2336-2341.e5

2024

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Summix: A method for detecting and adjusting for population structure in genetic summary data

American journal of human genetics, 2021-07, Vol.108 (7), p.1270-1282

2021

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Explanations for the discrepancy between variant frequency and homozygous disease occurrence: Lessons from Ashkenazi Jewish data

European journal of medical genetics, 2023-06, Vol.66 (6), p.104765-104765, Article 104765

2023

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Carrier frequency of CFTR variants in the non‐Caucasian populations by genome aggregation database (gnomAD)‐based analysis

Annals of human genetics, 2020-11, Vol.84 (6), p.463-468

2020

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Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data

Human mutation, 2021-08, Vol.42 (8), p.903-946

2021

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Estimating the prevalence of congenital disaccharidase deficiencies using allele frequencies from gnomAD

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2022-11, Vol.29 (8), p.599-603

2022

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Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes

International journal of molecular sciences, 2020-03, Vol.21 (7), p.2308

2020

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General population ZBTB18 missense variants influence DNA binding and transcriptional regulation

Human mutation, 2020-09, Vol.41 (9), p.1629-1644

2020

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Evaluation and limitations of different approaches among COVID-19 fatal cases using whole-exome sequencing data

BMC genomics, 2023-01, Vol.24 (1), p.12-12, Article 12

2023

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VPatho: a deep learning-based two-stage approach for accurate prediction of gain-of-function and loss-of-function variants

Briefings in bioinformatics, 2023-01, Vol.24 (1)

2023

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Promoter CpG Density Predicts Downstream Gene Loss-of-Function Intolerance

American journal of human genetics, 2020-09, Vol.107 (3), p.487-498

2020

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Considerations for using population frequency data in germline variant interpretation: Cancer syndrome genes as a model

Human mutation, 2021-05, Vol.42 (5), p.530-536

2021

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Variant interpretation using population databases: Lessons from gnomAD

MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains

Analysis of the Spectrum of ACE2 Variation Suggests a Possible Influence of Rare and Common Variants on Susceptibility to COVID-19 and Severity of Outcome

Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data

Hardy-Weinberg Equilibrium in the Large Scale Genomic Sequencing Era

VarSite: Disease variants and protein structure

Comprehensive Analysis of Constraint on the Spatial Distribution of Missense Variants in Human Protein Structures

Variable population prevalence estimates of germline TP53 variants: A gnomAD‐based analysis

MotSASi: Functional short linear motifs (SLiMs) prediction based on genomic single nucleotide variants and structural data

ABCG5 and ABCG8 genetic variants in familial hypercholesterolemia

Carrier frequency and incidence of alpha-mannosidosis: population database-based study-focus on the East Asian and Korean population

Elevated Leukodystrophy Incidence Predicted From Genomics Databases

Prevalence estimation of ATTRv in China based on genetic databases

A genome-wide spectrum of tandem repeat expansions in 338,963 humans

Summix: A method for detecting and adjusting for population structure in genetic summary data

Explanations for the discrepancy between variant frequency and homozygous disease occurrence: Lessons from Ashkenazi Jewish data

Carrier frequency of CFTR variants in the non‐Caucasian populations by genome aggregation database (gnomAD)‐based analysis

Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data

Estimating the prevalence of congenital disaccharidase deficiencies using allele frequencies from gnomAD

Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes

General population ZBTB18 missense variants influence DNA binding and transcriptional regulation

Evaluation and limitations of different approaches among COVID-19 fatal cases using whole-exome sequencing data

VPatho: a deep learning-based two-stage approach for accurate prediction of gain-of-function and loss-of-function variants

Promoter CpG Density Predicts Downstream Gene Loss-of-Function Intolerance

Considerations for using population frequency data in germline variant interpretation: Cancer syndrome genes as a model

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