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Analysis of protein-coding genetic variation in 60,706 humans
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title
Analysis of protein-coding genetic variation in 60,706 humans
(English)
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publication date
30 October 2015
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cites work
The CpG dinucleotide and human genetic disease
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1101%2F030338
retrieved
7 January 2021
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inferred from DOI database lookup
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
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Crossref
reference URL
https://api.crossref.org/works/10.1101%2F030338
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7 January 2021
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inferred from DOI database lookup
Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing
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Crossref
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https://api.crossref.org/works/10.1101%2F030338
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7 January 2021
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XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing
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Crossref
reference URL
https://api.crossref.org/works/10.1101%2F030338
retrieved
7 January 2021
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inferred from DOI database lookup
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
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https://api.crossref.org/works/10.1101%2F030338
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7 January 2021
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inferred from DOI database lookup
A proteome-scale map of the human interactome network
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Crossref
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https://api.crossref.org/works/10.1101%2F030338
retrieved
7 January 2021
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inferred from DOI database lookup
Natural selection on genes that underlie human disease susceptibility
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https://api.crossref.org/works/10.1101%2F030338
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7 January 2021
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Developing medicines that mimic the natural successes of the human genome: lessons from NPC1L1, HMGCR, PCSK9, APOC3, and CETP
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https://api.crossref.org/works/10.1101%2F030338
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7 January 2021
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Lethality and centrality in protein networks
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https://api.crossref.org/works/10.1101%2F030338
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7 January 2021
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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
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https://api.crossref.org/works/10.1101%2F030338
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7 January 2021
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DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome
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https://api.crossref.org/works/10.1101%2F030338
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7 January 2021
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Inference of human population history from individual whole-genome sequences
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https://api.crossref.org/works/10.1101%2F030338
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7 January 2021
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De novo mutations in schizophrenia implicate synaptic networks
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https://api.crossref.org/works/10.1101%2F030338
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7 January 2021
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inferred from DOI database lookup
Guidelines for investigating causality of sequence variants in human disease
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Crossref
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https://api.crossref.org/works/10.1101%2F030338
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7 January 2021
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Large-scale discovery of novel genetic causes of developmental disorders
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https://api.crossref.org/works/10.1101%2F030338
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7 January 2021
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A global reference for human genetic variation
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https://api.crossref.org/works/10.1101%2F030338
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7 January 2021
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Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls
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https://api.crossref.org/works/10.1101%2F030338
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7 January 2021
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A framework for the interpretation of de novo mutation in human disease
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Crossref
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https://api.crossref.org/works/10.1101%2F030338
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7 January 2021
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inferred from DOI database lookup
Identification of a large set of rare complete human knockouts
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Crossref
reference URL
https://api.crossref.org/works/10.1101%2F030338
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Large-scale whole-genome sequencing of the Icelandic population
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Crossref
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https://api.crossref.org/works/10.1101%2F030338
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7 January 2021
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A framework for variation discovery and genotyping using next-generation DNA sequencing data
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Crossref
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7 January 2021
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inferred from DOI database lookup
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
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https://api.crossref.org/works/10.1101%2F030338
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7 January 2021
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inferred from DOI database lookup
Learning about human population history from ancient and modern genomes.
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Crossref
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https://api.crossref.org/works/10.1101%2F030338
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7 January 2021
based on heuristic
inferred from DOI database lookup
Exome sequencing as a tool for Mendelian disease gene discovery
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Crossref
reference URL
https://api.crossref.org/works/10.1101%2F030338
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The human disease network
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Crossref
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https://api.crossref.org/works/10.1101%2F030338
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis
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Crossref
reference URL
https://api.crossref.org/works/10.1101%2F030338
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7 January 2021
based on heuristic
inferred from DOI database lookup
Human knockouts in a cohort with a high rate of consanguinity
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1101%2F030338
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A systematic survey of loss-of-function variants in human protein-coding genes
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1101%2F030338
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Evolution and functional impact of rare coding variation from deep sequencing of human exomes
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Crossref
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https://api.crossref.org/works/10.1101%2F030338
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7 January 2021
based on heuristic
inferred from DOI database lookup
Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans
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Crossref
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https://api.crossref.org/works/10.1101%2F030338
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7 January 2021
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inferred from DOI database lookup
Carrier testing for severe childhood recessive diseases by next-generation sequencing
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Crossref
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https://api.crossref.org/works/10.1101%2F030338
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7 January 2021
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inferred from DOI database lookup
Quantifying prion disease penetrance using large population control cohorts
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https://api.crossref.org/works/10.1101%2F030338
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7 January 2021
based on heuristic
inferred from DOI database lookup
The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits
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stated in
Crossref
reference URL
https://api.crossref.org/works/10.1101%2F030338
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7 January 2021
based on heuristic
inferred from DOI database lookup
Genic intolerance to functional variation and the interpretation of personal genomes
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stated in
Crossref
reference URL
https://api.crossref.org/works/10.1101%2F030338
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Distribution and medical impact of loss-of-function variants in the Finnish founder population
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1101%2F030338
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1101%2F030338
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1101/030338
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
88490
OpenCitations bibliographic resource ID
88490
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
88490
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