The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting
PD Stenson, M Mort, EV Ball, M Chapman, K Evans… - Human genetics, 2020 - Springer
Abstract The Human Gene Mutation Database (HGMD®) constitutes a comprehensive
collection of published germline mutations in nuclear genes that are thought to underlie, or …
collection of published germline mutations in nuclear genes that are thought to underlie, or …
Genetic testing for inherited cardiovascular diseases: a scientific statement from the American Heart Association
K Musunuru, RE Hershberger, SM Day… - Circulation: Genomic …, 2020 - Am Heart Assoc
Advances in human genetics are improving the understanding of a variety of inherited
cardiovascular diseases, including cardiomyopathies, arrhythmic disorders, vascular …
cardiovascular diseases, including cardiomyopathies, arrhythmic disorders, vascular …
Disease variant prediction with deep generative models of evolutionary data
Quantifying the pathogenicity of protein variants in human disease-related genes would
have a marked effect on clinical decisions, yet the overwhelming majority (over 98%) of …
have a marked effect on clinical decisions, yet the overwhelming majority (over 98%) of …
A joint NCBI and EMBL-EBI transcript set for clinical genomics and research
J Morales, S Pujar, JE Loveland, A Astashyn, R Bennett… - Nature, 2022 - nature.com
Comprehensive genome annotation is essential to understand the impact of clinically
relevant variants. However, the absence of a standard for clinical reporting and browser …
relevant variants. However, the absence of a standard for clinical reporting and browser …
Ensembl 2022
Abstract Ensembl (https://www. ensembl. org) is unique in its flexible infrastructure for access
to genomic data and annotation. It has been designed to efficiently deliver annotation at …
to genomic data and annotation. It has been designed to efficiently deliver annotation at …
ACMG SF v3. 0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and …
Clinicians are encouraged to document the reasons for the use of a particular procedure or
test, whether or not it is in conformance with this statement. Clinicians also are advised to …
test, whether or not it is in conformance with this statement. Clinicians also are advised to …
Ensembl 2021
Abstract The Ensembl project (https://www. ensembl. org) annotates genomes and
disseminates genomic data for vertebrate species. We create detailed and comprehensive …
disseminates genomic data for vertebrate species. We create detailed and comprehensive …
Development of a clinical polygenic risk score assay and reporting workflow
Implementation of polygenic risk scores (PRS) may improve disease prevention and
management but poses several challenges: the construction of clinically valid assays …
management but poses several challenges: the construction of clinically valid assays …
Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains
Attention-deficit hyperactivity disorder (ADHD) is a prevalent neurodevelopmental disorder
with a major genetic component. Here, we present a genome-wide association study meta …
with a major genetic component. Here, we present a genome-wide association study meta …
Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes
Genome-wide association studies have successfully discovered thousands of common
variants associated with human diseases and traits, but the landscape of rare variations in …
variants associated with human diseases and traits, but the landscape of rare variations in …