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The mutation significance cutoff: gene-level thresholds for variant predictions

The mutation significance cutoff: gene-level thresholds for variant predictions

http://www.wikidata.org/entity/Q40814517

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Human Knockout Carriers: Dead, Diseased, Healthy, or Improved?Understanding rare and common diseases in the context of human evolution EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.Heterogeneity of Human Neutrophil CD177 Expression Results from CD177P1 Pseudogene Conversion Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception Mutation spectrum of the Norrie disease pseudoglioma (NDP) gene in Indian patients with FEVR Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency.Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage.iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency.Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections.Exome and genome sequencing for inborn errors of immunity.Inheritance-mode specific pathogenicity prioritization (ISPP) for human protein coding genes.BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency.Discovery of Variants Underlying Host Susceptibility to Virus Infection Using Whole-Exome Sequencing.Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis.Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity.Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.Capturing the biology of disease severity in a PSC-based model of familial dysautonomia Evolutionary Genomics.GAVIN: Gene-Aware Variant INterpretation for medical sequencing.Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency Whole-exome sequencing for detecting inborn errors of immunity: overview and perspectives.Human genetics of infectious diseases: Unique insights into immunological redundancy.Frequently used bioinformatics tools overestimate the damaging effect of allelic variants.Properties of human genes guided by their enrichment in rare and common variants.A literature review at genome scale: improving clinical variant assessment.Paracoccidioidomycosis Associated With a Heterozygous STAT4 Mutation and Impaired IFN-γ Immunity.Defective RNA sensing by RIG-I in severe influenza virus infection.Loss-of-function CARD8 mutation causes NLRP3 inflammasome activation and Crohn's disease.Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.Exome sequencing identifies a novel mutation in GJA8 associated with inherited cataract in a Chinese family.Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis.Human ALPI deficiency causes inflammatory bowel disease and highlights a key mechanism of gut homeostasis.IRF4 haploinsufficiency in a family with Whipple's disease.De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency.

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The mutation significance cutoff: gene-level thresholds for variant predictions

http://www.wikidata.org/entity/Q40814517

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The mutation significance cutoff: gene-level thresholds for variant predictions

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The mutation significance cutoff: gene-level thresholds for variant predictions

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Eric Scott

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Ishaan Shah

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Lei Shang

http://www.w3.org/2001/XMLSchema#string

Lluis Quintana-Murci

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Michael J Ciancanelli

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Peter D Stenson

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Ruben Martinez-Barricarte

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Yuval Itan

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A global reference for human genetic variation

A method and server for predicting damaging missense mutations

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

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

A general framework for estimating the relative pathogenicity of human genetic variants

Genic intolerance to functional variation and the interpretation of personal genomes

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

Can the impact of human genetic variations be predicted?

The human gene damage index as a gene-level approach to prioritizing exome variants.

ClinVar: public archive of relationships among sequence variation and human phenotype

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10.1038/NMETH.3739

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2

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13

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Jean-Laurent Casanova

David N. Cooper

Shen-Ying Zhang

Bertrand Boisson

Joseph G Gleeson

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2016-01-01T00:00:00Z

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26820543

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4980758

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