Home
Random
Nearby
Log in
Settings
Donate
About Wikidata
Disclaimers
Search
(Q92955773)
Watch
English
Measuring intolerance to mutation in human genetics
scientific article published on 08 April 2019
In more languages
edit
Statements
instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
6615471
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30962618%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 May 2020
title
Measuring intolerance to mutation in human genetics
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
6615471
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30962618%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 May 2020
main subject
human genetics
1 reference
based on heuristic
inferred from title
author
Zachary L Fuller
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
6615471
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30962618%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 May 2020
Hakhamanesh Mostafavi
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
6615471
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30962618%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 May 2020
author name string
Jeremy J Berg
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
6615471
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30962618%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 May 2020
Guy Sella
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMC publication ID
6615471
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30962618%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 May 2020
Molly Przeworski
series ordinal
5
1 reference
stated in
Europe PubMed Central
PMC publication ID
6615471
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30962618%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 May 2020
publication date
8 April 2019
1 reference
stated in
Europe PubMed Central
PMC publication ID
6615471
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30962618%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 May 2020
published in
Nature Genetics
1 reference
stated in
Europe PubMed Central
PMC publication ID
6615471
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30962618%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 May 2020
volume
51
1 reference
stated in
Europe PubMed Central
PMC publication ID
6615471
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30962618%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 May 2020
issue
5
1 reference
stated in
Europe PubMed Central
PMC publication ID
6615471
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30962618%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 May 2020
page(s)
772-776
1 reference
stated in
Europe PubMed Central
PMC publication ID
6615471
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30962618%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 May 2020
cites work
Applicability of the Mutation-Selection Balance Model to Population Genetics of Heterozygous Protein-Truncating Variants in Humans
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
A map of constrained coding regions in the human genome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
De novo variants in neurodevelopmental disorders with epilepsy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
A population genetic interpretation of GWAS findings for human quantitative traits.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
Human gene essentiality
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
MAPPIN: a method for annotating, predicting pathogenicity and mode of inheritance for nonsynonymous variants
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
The population genetics of human disease: The case of recessive, lethal mutations
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
Settling the score: variant prioritization and Mendelian disease.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
Murine model indicates 22q11.2 signaling adaptor CRKL is a dosage-sensitive regulator of genitourinary development
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
Estimating the selective effects of heterozygous protein-truncating variants from human exome data.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
Inference of the Distribution of Selection Coefficients for New Nonsynonymous Mutations Using Large Samples
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
LoFtool: a gene intolerance score based on loss-of-function variants in 60 706 individuals
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
Analysis of protein-coding genetic variation in 60,706 humans
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
Patterns of genic intolerance of rare copy number variation in 59,898 human exomes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
The Characteristics of Heterozygous Protein Truncating Variants in the Human Genome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
Haploinsufficiency predictions without study bias.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
Approximation to the distribution of fitness effects across functional categories in human segregating polymorphisms
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
A framework for the interpretation of de novo mutation in human disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
Inferring human population size and separation history from multiple genome sequences
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
The deleterious mutation load is insensitive to recent population history
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
Genic intolerance to functional variation and the interpretation of personal genomes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
BRCA1 and BRCA2: different roles in a common pathway of genome protection
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
Inferences about the distribution of dominance drawn from yeast gene knockout data
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
Global distribution of the sickle cell gene and geographical confirmation of the malaria hypothesis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
Characterising and predicting haploinsufficiency in the human genome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
The importance of elastin to aortic development in mice
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
Fitness and its role in evolutionary genetics
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
The Mouse Genome Database genotypes::phenotypes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
Natural selection on genes that underlie human disease susceptibility
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
Assessing the evolutionary impact of amino acid mutations in the human genome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
The Distribution of Gene Frequencies in Populations
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
The distribution of fitness effects of new deleterious amino acid mutations in humans
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
Widespread correlations between dominance and homozygous effects of mutations: implications for theories of dominance
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
Simultaneous inference of selection and population growth from patterns of variation in the human genome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
Mutation-selection balance with multiple alleles
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
Estimation of deleterious-mutation parameters in natural populations
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
Identification of the breast cancer susceptibility gene BRCA2
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
The distribution of mutation effects on viability in Drosophila melanogaster
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
Molecular variation of the human elastin (ELN) gene in a normal human population
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
Mutation rate and dominance of genes affecting viability in Drosophila melanogaster
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
Mutations affecting fitness in Drosophila populations
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6615471
retrieved
11 February 2021
A Mathematical Theory of Natural and Artificial Selection, Part V: Selection and Mutation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41588-019-0383-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1038/S41588-019-0383-1
1 reference
stated in
Europe PubMed Central
PMC publication ID
6615471
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30962618%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 May 2020
PMC publication ID
6615471
1 reference
stated in
Europe PubMed Central
PMC publication ID
6615471
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30962618%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 May 2020
PubMed publication ID
30962618
1 reference
stated in
Europe PubMed Central
PMC publication ID
6615471
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30962618%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 May 2020
Sitelinks
Wikipedia
(0 entries)
edit
Wikibooks
(0 entries)
edit
Wikinews
(0 entries)
edit
Wikiquote
(0 entries)
edit
Wikisource
(0 entries)
edit
Wikiversity
(0 entries)
edit
Wikivoyage
(0 entries)
edit
Wiktionary
(0 entries)
edit
Multilingual sites
(0 entries)
edit
