Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals - Wikidata - awgldk - TriplyDB

Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals

Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals

http://www.wikidata.org/entity/Q28607995

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Has the biobank bubble burst? Withstanding the challenges for sustainable biobanking in the digital era Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and Perspectives Deep sequencing of 10,000 human genomes A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies Routine genetic testing of lung cancer specimens derived from surgery, bronchoscopy and fluid aspiration by next generation sequencing.The MHC locus and genetic susceptibility to autoimmune and infectious diseases.Identification of the functional variant driving ORMDL3 and GSDMB expression in human chromosome 17q12-21 in primary biliary cholangitis.Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population.Non-Coding Loss-of-Function Variation in Human Genomes.Security controls in an integrated Biobank to protect privacy in data sharing: rationale and study design.Establishment of Protocols for Global Metabolomics by LC-MS for Biomarker Discovery AP-SKAT: highly-efficient genome-wide rare variant association test.Germline Variants of Prostate Cancer in Japanese Families.STR-realigner: a realignment method for short tandem repeat regions.Japonica array: improved genotype imputation by designing a population-specific SNP array with 1070 Japanese individuals Direct determination of diploid genome sequences.iJGVD: an integrative Japanese genome variation database based on whole-genome sequencing.Human genetic variation database, a reference database of genetic variations in the Japanese population.The structural origin of metabolic quantitative diversity.The Tohoku Medical Megabank Project: Design and Mission.Discrepancies between human DNA, mRNA and protein reference sequences and their relation to single nucleotide variants in the human population.Investigation of single-nucleotide variants in MBD5 associated with autism spectrum disorders and schizophrenia phenotypes.LRRK2 but not ATG16L1 is associated with Paneth cell defect in Japanese Crohn's disease patients.SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population.Rare genetic variants in CX3CR1 and their contribution to the increased risk of schizophrenia and autism spectrum disorders.Whole-genome sequencing approaches for conservation biology: advantages, limitations, and practical recommendations.Inclusion of Population-specific Reference Panel from India to the 1000 Genomes Phase 3 Panel Improves Imputation Accuracy.Evaluation of Quality Assessment Protocols for High Throughput Genome Resequencing Data.Differential analysis of mutations in the Jewish population and their implications for diseases.Genome-wide association studies identify PRKCB as a novel genetic susceptibility locus for primary biliary cholangitis in the Japanese population.Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder.Exome-wide Association Study Identifies CLEC3B Missense Variant p.S106G as Being Associated With Extreme Longevity in East Asian Populations.Asparagine Synthetase deficiency-report of a novel mutation and review of literature.The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification.Characterization of PAX9 variant P20L identified in a Japanese family with tooth agenesis.Reference genome assessment from a population scale perspective: an accurate profile of variability and noise.Cloud-based Interactive Analytics for Terabytes of Genomic Variants Data.National human genome projects: an update and an agenda.Longitudinal exome-wide association study to identify genetic susceptibility loci for hypertension in a Japanese population.Significance of functional disease-causal/susceptible variants identified by whole-genome analyses for the understanding of human diseases.

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Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals

http://www.wikidata.org/entity/Q28607995

description

2015 nî lūn-bûn

@nan

2015 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2015 թվականի օգոստոսին հրատարակված գիտական հոդված

@hy

2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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name

Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals

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Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals

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Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals

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Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals

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Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals

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Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals

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Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals

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Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals

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Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals

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Nature Communications

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Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals

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Atsushi Hozawa

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Fumiki Katsuoka

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Inaho Danjoh

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James Douglas Engel

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Junji Yokozawa

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Kaname Kojima

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Kaoru Tsuda

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Kengo Kinoshita

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Masao Nagasaki

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Masayuki Yamamoto

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Initial sequencing and analysis of the human genome

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

Inferring the joint demographic history of multiple populations from multidimensional SNP frequency data

An integrated encyclopedia of DNA elements in the human genome

An integrated map of genetic variation from 1,092 human genomes

Finding the missing heritability of complex diseases

Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development.

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

Functional impact of global rare copy number variation in autism spectrum disorders

Fast and accurate short read alignment with Burrows-Wheeler transform

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8018

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117765

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10.1038/NCOMMS9018

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6

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Hideyasu Kiyomoto

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2015-08-21T00:00:00Z

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281139292

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1029523624

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26292667

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4560751

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