The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data - sprookjes - yvandenbroek - TriplyDB

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

http://www.wikidata.org/entity/Q27860742

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Genomic evidence for island population conversion resolves conflicting theories of polar bear evolution OTX2 duplication is implicated in hemifacial microsomia Novel insights into the bovine polled phenotype and horn ontogenesis in Bovidae A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant Genome sequencing highlights the dynamic early history of dogs Genomic identification of founding haplotypes reveals the history of the selfing species Capsella rubella The draft genome of sweet orange (Citrus sinensis)Current challenges in the bioinformatics of single cell genomics.Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient Development and Characterization of Bladder Cancer Patient-Derived Xenografts for Molecularly Guided Targeted Therapy Characterization of X chromosome inactivation using integrated analysis of whole-exome and mRNA sequencing Exome sequencing identifies DLG1 as a novel gene for potential susceptibility to Crohn's disease in a Chinese family study Whole genome sequence typing to investigate the Apophysomyces outbreak following a tornado in Joplin, Missouri, 2011 Paired tumor and normal whole genome sequencing of metastatic olfactory neuroblastoma Major population expansion of East Asians began before neolithic time: evidence of mtDNA genomes Genomics of adaptation during experimental evolution of the opportunistic pathogen Pseudomonas aeruginosa Phased whole-genome genetic risk in a family quartet using a major allele reference sequence Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia "Genotype-first" approaches on a curious case of idiopathic progressive cognitive decline Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria Generation of SNP datasets for orangutan population genomics using improved reduced-representation sequencing and direct comparisons of SNP calling algorithms.The evolutionary genetics of highly divergent alleles of the mimicry locus in Papilio dardanus Ancient human genomes suggest three ancestral populations for present-day Europeans Customisation of the exome data analysis pipeline using a combinatorial approach Genetic and phenotypic intra-species variation in Candida albicans Achieving high-sensitivity for clinical applications using augmented exome sequencing Sequencing Y chromosomes resolves discrepancy in time to common ancestor of males versus females Linked selection and recombination rate variation drive the evolution of the genomic landscape of differentiation across the speciation continuum of Ficedula flycatchers Whole-Genome Resequencing of Experimental Populations Reveals Polygenic Basis of Egg-Size Variation in Drosophila melanogaster Sequencing pools of individuals — mining genome-wide polymorphism data without big funding Chimeric EWSR1-FLI1 regulates the Ewing sarcoma susceptibility gene EGR2 via a GGAA microsatellite A heterozygous moth genome provides insights into herbivory and detoxification TREM2 Variants in Alzheimer's Disease CRISPR/Cas9-mediated gene editing in human tripronuclear zygotes Association claims in the sequencing era Mutations in PAX2 associate with adult-onset FSGS Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

http://www.wikidata.org/entity/Q27860742

description

2010 nî lūn-bûn

@nan

2010 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի սեպտեմբերին հրատարակված գիտական հոդված

@hy

2010年の論文

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2010年論文

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2010年論文

@zh-hant

2010年論文

@zh-hk

2010年論文

@zh-mo

2010年論文

@zh-tw

2010年论文

@wuu

name

The Genome Analysis Toolkit: A ...... generation DNA sequencing data

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The Genome Analysis Toolkit: A ...... generation DNA sequencing data

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Genome Research

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Andrey Sivachenko

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The diploid genome sequence of an Asian individual

The complete genome of an individual by massively parallel DNA sequencing

Genome sequencing in microfabricated high-density picolitre reactors

dbSNP: the NCBI database of genetic variation

Accurate whole human genome sequencing using reversible terminator chemistry

Mapping short DNA sequencing reads and calling variants using mapping quality scores

Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding

Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing

Fast and accurate short read alignment with Burrows-Wheeler transform

The human genome browser at UCSC

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1297-303

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scholarly article

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33687

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10.1101/GR.107524.110

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9

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20

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Kristian Cibulskis

Mark Joseph Daly

David Altshuler

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2010-09-01T00:00:00Z

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45275361

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20644199

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2928508

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