Measuring intolerance to mutation in human genetics

scientific article published on 08 April 2019

Measuring intolerance to mutation in human genetics is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1038/S41588-019-0383-1
P932PMC publication ID6615471
P698PubMed publication ID30962618

P50authorHakhamanesh MostafaviQ58579195
Zachary L FullerQ85822747
P2093author name stringMolly Przeworski
Guy Sella
Jeremy J Berg
P2860cites workApplicability of the Mutation-Selection Balance Model to Population Genetics of Heterozygous Protein-Truncating Variants in HumansQ90025610
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Natural selection on genes that underlie human disease susceptibilityQ28757653
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Genic intolerance to functional variation and the interpretation of personal genomesQ31129974
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The importance of elastin to aortic development in miceQ34092808
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Patterns of genic intolerance of rare copy number variation in 59,898 human exomesQ37297685
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized DystoniaQ37480675
The deleterious mutation load is insensitive to recent population historyQ37636303
De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsyQ38644631
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human GenomeQ38787050
Murine model indicates 22q11.2 signaling adaptor CRKL is a dosage-sensitive regulator of genitourinary developmentQ38822009
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Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.Q41918292
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Inferring human population size and separation history from multiple genome sequencesQ42757914
Haploinsufficiency predictions without study bias.Q42922212
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Human gene essentialityQ46065137
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.Q46581841
Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disordersQ47138547
MAPPIN: a method for annotating, predicting pathogenicity and mode of inheritance for nonsynonymous variantsQ47144694
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disabilityQ48133294
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Mutation-selection balance with multiple allelesQ77161185
P433issue5
P921main subjecthuman geneticsQ265799
P304page(s)772-776
P577publication date2019-04-08
P1433published inNature GeneticsQ976454
P1476titleMeasuring intolerance to mutation in human genetics
P478volume51

Reverse relations

cites work (P2860)
Q95933928Evaluating drug targets through human loss-of-function genetic variation
Q91651868Genetics and functions of the retinoic acid pathway, with special emphasis on the eye
Q89474376Human and mouse essentiality screens as a resource for disease gene discovery
Q89983086Integrated structural and evolutionary analysis reveals common mechanisms underlying adaptive evolution in mammals
Q90353797Phylogenetic modeling of regulatory element turnover based on epigenomic data
Q89619723The Epilepsy of Infancy With Migrating Focal Seizures: Identification of de novo Mutations of the KCNT2 Gene That Exert Inhibitory Effects on the Corresponding Heteromeric KNa1.1/KNa1.2 Potassium Channel
Q95933932The mutational constraint spectrum quantified from variation in 141,456 humans

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