Completing the map of human genetic variation. - Wikidata - awgldk - TriplyDB

Completing the map of human genetic variation.

Completing the map of human genetic variation.

http://www.wikidata.org/entity/Q37200545

about

Human genetics and genomics a decade after the release of the draft sequence of the human genome Mapping and sequencing of structural variation from eight human genomes Systems medicine: the future of medical genomics and healthcare Statistical aspects of discerning indel-type structural variation via DNA sequence alignment FusionSeq: a modular framework for finding gene fusions by analyzing Paired-End RNA-Sequencing data Human genetic variation and Parkinson's disease Autism: the quest for the genes A genome-wide approach for detecting novel insertion-deletion variants of mid-range size Evidence of convergent evolution in humans and macaques supports an adaptive role for copy number variation of the β-defensin-2 gene PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data A model-based clustering method for genomic structural variant prediction and genotyping using paired-end sequencing data Linkage disequilibrium in wild mice.Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies.A sequence-based survey of the complex structural organization of tumor genomes.Improved detection of global copy number variation using high density, non-polymorphic oligonucleotide probes Bioinformatics in China: a personal perspective Systematic identification of balanced transposition polymorphisms in Saccharomyces cerevisiae Sequence and structure signatures of cancer mutation hotspots in protein kinases Nucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism.MouseIndelDB: a database integrating genomic indel polymorphisms that distinguish mouse strains.Copy number variation at leptin receptor gene locus associated with metabolic traits and the risk of type 2 diabetes mellitus.Copy number variants in genetic susceptibility and severity of systemic lupus erythematosus Public data archives for genomic structural variation.The effect of algorithms on copy number variant detection.CNNdel: Calling Structural Variations on Low Coverage Data Based on Convolutional Neural Networks The functional impact of structural variation in humans.Characterization of missing human genome sequences and copy-number polymorphic insertions Targeted isolation of cloned genomic regions by recombineering for haplotype phasing and isogenic targeting.Variance of gene expression identifies altered network constraints in neurological disease.Copy number variation in human health, disease, and evolution.Application of OMICS technologies in occupational and environmental health research; current status and projections.Common vs. rare allele hypotheses for complex diseases A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration Human copy number polymorphic genes Massively parallel sequencing approaches for characterization of structural variation A sequence variant in human KALRN impairs protein function and coincides with reduced cortical thickness.Pharmacogenomics and individualized medicine: translating science into practice.Are we Genomic Mosaics? Variations of the Genome of Somatic Cells can Contribute to Diversify our Phenotypes Controlled somatic and germline copy number variation in the mouse model A human genome structural variation sequencing resource reveals insights into mutational mechanisms.

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Completing the map of human genetic variation.

http://www.wikidata.org/entity/Q37200545

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article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on May 2007

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Completing the map of human genetic variation.

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Completing the map of human genetic variation.

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Completing the map of human genetic variation.

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Completing the map of human genetic variation.

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prefLabel

Completing the map of human genetic variation.

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Completing the map of human genetic variation.

@nl

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Completing the map of human genetic variation.

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Adam Felsenfeld

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Charles Lee

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David Valle

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Deanna M Church

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Deborah A Nickerson

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Douglas Smith

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Evan E Eichler

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Human Genome Structural Variation Working Group

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James R Lupski

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

Jonathan K Pritchard

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

P2860

Initial sequencing and analysis of the human genome

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

The Sequence of the Human Genome

Structural variation in the human genome

Fine-scale structural variation of the human genome

A vision for the future of genomics research

Global variation in copy number in the human genome

A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon

A haplotype map of the human genome

Detection of large-scale variation in the human genome

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161-165

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10.1038/447161A

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Anne M. Bowcock

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