Analysis of protein-coding genetic variation in 60,706 humans (Q26831375)

7 January 2021

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

1 reference

7 January 2021

Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing

1 reference

7 January 2021

XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing

1 reference

7 January 2021

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

1 reference

7 January 2021

A proteome-scale map of the human interactome network

1 reference

7 January 2021

Natural selection on genes that underlie human disease susceptibility

1 reference

7 January 2021

Developing medicines that mimic the natural successes of the human genome: lessons from NPC1L1, HMGCR, PCSK9, APOC3, and CETP

1 reference

7 January 2021

Lethality and centrality in protein networks

1 reference

7 January 2021

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

1 reference

7 January 2021

DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome

1 reference

7 January 2021

Inference of human population history from individual whole-genome sequences

1 reference

7 January 2021

De novo mutations in schizophrenia implicate synaptic networks

1 reference

7 January 2021

Guidelines for investigating causality of sequence variants in human disease

1 reference

7 January 2021

Large-scale discovery of novel genetic causes of developmental disorders

1 reference

7 January 2021

A global reference for human genetic variation

1 reference

7 January 2021

Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls

1 reference

7 January 2021

A framework for the interpretation of de novo mutation in human disease

1 reference

7 January 2021

Identification of a large set of rare complete human knockouts

1 reference

7 January 2021

Large-scale whole-genome sequencing of the Icelandic population

1 reference

7 January 2021

A framework for variation discovery and genotyping using next-generation DNA sequencing data

1 reference

7 January 2021

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

1 reference

7 January 2021

Learning about human population history from ancient and modern genomes.

1 reference

7 January 2021

Exome sequencing as a tool for Mendelian disease gene discovery

1 reference

7 January 2021

The human disease network

1 reference

7 January 2021

A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis

1 reference

7 January 2021

Human knockouts in a cohort with a high rate of consanguinity

1 reference

7 January 2021

A systematic survey of loss-of-function variants in human protein-coding genes

1 reference

7 January 2021

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

1 reference

7 January 2021

Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans

1 reference

7 January 2021

Carrier testing for severe childhood recessive diseases by next-generation sequencing

1 reference

7 January 2021

Quantifying prion disease penetrance using large population control cohorts

1 reference

7 January 2021

The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits

1 reference

7 January 2021

Genic intolerance to functional variation and the interpretation of personal genomes

1 reference

7 January 2021

Distribution and medical impact of loss-of-function variants in the Finnish founder population

1 reference

7 January 2021

Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data

1 reference

7 January 2021

Identifiers

DOI

10.1101/030338

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

88490

OpenCitations bibliographic resource ID

88490

1 reference