Genetic variation in an individual human exome - Wikidata - wikimedia - TriplyDB

Genetic variation in an individual human exome

Genetic variation in an individual human exome

http://www.wikidata.org/entity/Q21145035

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Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient Explaining the imperfection of the molecular clock of hominid mitochondria Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease Enrichment of sequencing targets from the human genome by solution hybridization Predicting the effects of frameshifting indels Towards a comprehensive structural variation map of an individual human genome Genetic diagnosis by whole exome capture and massively parallel DNA sequencing A form of the metabolic syndrome associated with mutations in DYRK1B BRAF mutations in hairy-cell leukemia Targeted capture and massively parallel sequencing of 12 human exomes Eyes wide open: the personal genome project, citizen science and veracity in informed consent Challenges in medical applications of whole exome/genome sequencing discoveries Somatic mutations in aging, cancer and neurodegeneration A copy number variation map of the human genome Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress A framework for application of metabolic modeling in yeast to predict the effects of nsSNV in human orthologs The pioneering role of PRDM9 indel mutations in tarsier evolution Origins and functional impact of copy number variation in the human genome Exome sequencing of a multigenerational human pedigree A systematic survey of loss-of-function variants in human protein-coding genes An association-adjusted consensus deleterious scheme to classify homozygous Mis-sense mutations for personal genome interpretation Complement 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 genes Inheritance patterns of progressive hearing loss in laboratory strains of mice A variational Bayes discrete mixture test for rare variant association Identification 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 proteins A 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 cohorts Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes Improved detection of rare genetic variants for diseases.The dynamic exome: acquired variants as individuals age.

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Genetic variation in an individual human exome

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Genetic variation in an individual human exome

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Brian P Walenz

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Dana A Busam

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Jiaqi Huang

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Kelvin Li

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Nelson Axelrod

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Samuel Levy

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Initial sequencing and analysis of the human genome

The diploid genome sequence of an individual human

The Sequence of the Human Genome

The complete genome of an individual by massively parallel DNA sequencing

Evolutionary Rate at the Molecular Level

Initial sequence of the chimpanzee genome and comparison with the human genome

Genome sequence of the Brown Norway rat yields insights into mammalian evolution

Initial sequencing and comparative analysis of the mouse genome

Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

The human chitotriosidase gene. Nature of inherited enzyme deficiency

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J. Craig Venter

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