about
Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical PatientExplaining the imperfection of the molecular clock of hominid mitochondriaMutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth diseaseEnrichment of sequencing targets from the human genome by solution hybridizationPredicting the effects of frameshifting indelsTowards a comprehensive structural variation map of an individual human genomeGenetic diagnosis by whole exome capture and massively parallel DNA sequencingA form of the metabolic syndrome associated with mutations in DYRK1BBRAF mutations in hairy-cell leukemiaTargeted capture and massively parallel sequencing of 12 human exomesEyes wide open: the personal genome project, citizen science and veracity in informed consentChallenges in medical applications of whole exome/genome sequencing discoveriesSomatic mutations in aging, cancer and neurodegenerationA copy number variation map of the human genomeIdentifying disease mutations in genomic medicine settings: current challenges and how to accelerate progressA framework for application of metabolic modeling in yeast to predict the effects of nsSNV in human orthologsThe pioneering role of PRDM9 indel mutations in tarsier evolutionOrigins and functional impact of copy number variation in the human genomeExome sequencing of a multigenerational human pedigreeA systematic survey of loss-of-function variants in human protein-coding genesAn association-adjusted consensus deleterious scheme to classify homozygous Mis-sense mutations for personal genome interpretationComplement factor H gene associations with end-stage kidney disease in African Americans.Human allelic variation: perspective from protein function, structure, and evolution.Residue mutations and their impact on protein structure and function: detecting beneficial and pathogenic changes.The genetics of reading disabilities: from phenotypes to candidate genesInheritance patterns of progressive hearing loss in laboratory strains of miceA variational Bayes discrete mixture test for rare variant associationIdentification of factors required for meristem function in Arabidopsis using a novel next generation sequencing fast forward genetics approach.Detection of genomic variation by selection of a 9 mb DNA region and high throughput sequencing.Structural and functional restraints on the occurrence of single amino acid variations in human proteinsA comprehensive study of small non-frameshift insertions/deletions in proteins and prediction of their phenotypic effects by a machine learning method (KD4i).VariantClassifier: A hierarchical variant classifier for annotated genomes.Pharmacogenetics and personal genomes.The characterization of twenty sequenced human genomes.Characterising and predicting haploinsufficiency in the human genome.Sequencing your genome: what does it mean?High-throughput discovery of rare insertions and deletions in large cohortsEvolutionary constraint facilitates interpretation of genetic variation in resequenced human genomesImproved detection of rare genetic variants for diseases.The dynamic exome: acquired variants as individuals age.
P2860
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P2860
description
2008 nî lūn-bûn
@nan
2008 թուականին հրատարակուած գիտական յօդուած
@hyw
2008 թվականին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Genetic variation in an individual human exome
@ast
Genetic variation in an individual human exome
@en
Genetic variation in an individual human exome
@en-gb
Genetic variation in an individual human exome
@nl
type
label
Genetic variation in an individual human exome
@ast
Genetic variation in an individual human exome
@en
Genetic variation in an individual human exome
@en-gb
Genetic variation in an individual human exome
@nl
prefLabel
Genetic variation in an individual human exome
@ast
Genetic variation in an individual human exome
@en
Genetic variation in an individual human exome
@en-gb
Genetic variation in an individual human exome
@nl
P2093
P2860
P3181
P1433
P1476
Genetic variation in an individual human exome
@en
P2093
Brian P Walenz
Dana A Busam
Jiaqi Huang
Nelson Axelrod
Pauline C Ng
Robert L Strausberg
Samuel Levy
P2860
P304
P3181
P356
10.1371/JOURNAL.PGEN.1000160
P407
P577
2008-01-01T00:00:00Z