aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment

A joint NCBI and EMBL-EBI transcript set for clinical genomics and research

(2022) Joannella Morales et al.   NATURE

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

(2022) Georg F. Vogel et al.   GENETICS IN MEDICINE

Genotypic and phenotypic spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency

(2022) M. Goetz et al.   MOLECULAR GENETICS AND METABOLISM

Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder

(2021) Francesca Semino et al.   HUMAN MUTATION

Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria

(2021) Heiko Brennenstuhl et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

(2020) Dominic Lenz et al.   GENETICS IN MEDICINE

The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting

(2020) Peter D. Stenson et al.   HUMAN GENETICS

UniProt: the universal protein knowledgebase in 2021

(2020) et al.   NUCLEIC ACIDS RESEARCH

dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs

(2020) Xiaoming Liu et al.   Genome Medicine

Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database

(2019) Eduardo Pérez-Palma et al.   NUCLEIC ACIDS RESEARCH

VarSome: the human genomic variant search engine

(2018) Christos Kopanos et al.   BIOINFORMATICS

APPRIS 2017: principal isoforms for multiple gene sets

(2017) Jose Manuel Rodriguez et al.   NUCLEIC ACIDS RESEARCH

Coming of age: ten years of next-generation sequencing technologies

(2016) Sara Goodwin et al.   NATURE REVIEWS GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

Performance of mutation pathogenicity prediction methods on missense variants

(2011) Janita Thusberg et al.   HUMAN MUTATION

LOVD v.2.0: the next generation in gene variant databases

(2011) Ivo F. A. C. Fokkema et al.   HUMAN MUTATION

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH