Most rare missense alleles are deleterious in humans: implications for complex disease and association studies.
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An autism-associated variant of Epac2 reveals a role for Ras/Epac2 signaling in controlling basal dendrite maintenance in miceJumping on the Train of Personalized Medicine: A Primer for Non-Geneticist Clinicians: Part 2. Fundamental Concepts in Genetic EpidemiologyMissense mutations in the MEFV gene are associated with fibromyalgia syndrome and correlate with elevated IL-1beta plasma levelsA novel custom resequencing array for dilated cardiomyopathyExome sequencing identifies the cause of a mendelian disorderDirect measure of the de novo mutation rate in autism and schizophrenia cohortsDe novo mutations in epileptic encephalopathiesBeyond the fourth wave of genome-wide obesity association studiesPhysiologic characterization of type 2 diabetes-related lociCumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephalyRare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophyContribution of SHANK3 mutations to autism spectrum disorderGermline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromesExcavating the Genome: Large-Scale Mutagenesis Screening for the Discovery of New Mouse ModelsAnnotating individual human genomesPopulation genetic tools for dissecting innate immunity in humansComputational and statistical approaches to analyzing variants identified by exome sequencingExome sequencing and complex disease: practical aspects of rare variant association studiesDestabilizing protein polymorphisms in the genetic background direct phenotypic expression of mutant SOD1 toxicityUnderstanding rare and common diseases in the context of human evolutionRecent and ongoing selection in the human genomeExploring the role of copy number variants in human adaptationPatterns and rates of exonic de novo mutations in autism spectrum disorders267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic VariationProgress in methods for rare variant associationLeveraging Distant Relatedness to Quantify Human Mutation and Gene-Conversion RatesPositive selection of deleterious alleles through interaction with a sex-ratio suppressor gene in African Buffalo: a plausible new mechanism for a high frequency anomalyThe emergence of human-evolutionary medical genomicsPooled association tests for rare variants in exon-resequencing studiesGenomewide linkage scan of schizophrenia in a large multicenter pedigree sample using single nucleotide polymorphismsWidespread genomic signatures of natural selection in hominid evolutionNatural selection on genes that underlie human disease susceptibilityGenome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in EuropeExcess of rare variants in genes identified by genome-wide association study of hypertriglyceridemiaA framework for the interpretation of de novo mutation in human diseaseRare and low-frequency coding variants alter human adult heightHuman genetics as a model for target validation: finding new therapies for diabetes.Genetic Basis of Common Human Disease: Insight into the Role of Missense SNPs from Genome-Wide Association StudiesHuman allelic variation: perspective from protein function, structure, and evolution.Meiotic recombination favors the spreading of deleterious mutations in human populations.
P2860
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P2860
Most rare missense alleles are deleterious in humans: implications for complex disease and association studies.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Most rare missense alleles are ...... sease and association studies.
@ast
Most rare missense alleles are ...... sease and association studies.
@en
type
label
Most rare missense alleles are ...... sease and association studies.
@ast
Most rare missense alleles are ...... sease and association studies.
@en
prefLabel
Most rare missense alleles are ...... sease and association studies.
@ast
Most rare missense alleles are ...... sease and association studies.
@en
P2093
P2860
P356
P1476
Most rare missense alleles are ...... sease and association studies.
@en
P2093
Gregory V Kryukov
Len A Pennacchio
Shamil R Sunyaev
P2860
P304
P356
10.1086/513473
P407
P577
2007-03-08T00:00:00Z