The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
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Genomic evidence for island population conversion resolves conflicting theories of polar bear evolutionOTX2 duplication is implicated in hemifacial microsomiaNovel insights into the bovine polled phenotype and horn ontogenesis in BovidaeA mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variantGenome sequencing highlights the dynamic early history of dogsGenomic identification of founding haplotypes reveals the history of the selfing species Capsella rubellaThe 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 PatientDevelopment and Characterization of Bladder Cancer Patient-Derived Xenografts for Molecularly Guided Targeted TherapyCharacterization of X chromosome inactivation using integrated analysis of whole-exome and mRNA sequencingExome sequencing identifies DLG1 as a novel gene for potential susceptibility to Crohn's disease in a Chinese family studyWhole genome sequence typing to investigate the Apophysomyces outbreak following a tornado in Joplin, Missouri, 2011Paired tumor and normal whole genome sequencing of metastatic olfactory neuroblastomaMajor population expansion of East Asians began before neolithic time: evidence of mtDNA genomesGenomics of adaptation during experimental evolution of the opportunistic pathogen Pseudomonas aeruginosaPhased whole-genome genetic risk in a family quartet using a major allele reference sequenceWhole-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 declineExome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden deathWhole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvementMutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduriaGeneration 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 dardanusAncient human genomes suggest three ancestral populations for present-day EuropeansCustomisation of the exome data analysis pipeline using a combinatorial approachGenetic and phenotypic intra-species variation in Candida albicansAchieving high-sensitivity for clinical applications using augmented exome sequencingSequencing Y chromosomes resolves discrepancy in time to common ancestor of males versus femalesLinked selection and recombination rate variation drive the evolution of the genomic landscape of differentiation across the speciation continuum of Ficedula flycatchersWhole-Genome Resequencing of Experimental Populations Reveals Polygenic Basis of Egg-Size Variation in Drosophila melanogasterSequencing pools of individuals — mining genome-wide polymorphism data without big fundingChimeric EWSR1-FLI1 regulates the Ewing sarcoma susceptibility gene EGR2 via a GGAA microsatelliteA heterozygous moth genome provides insights into herbivory and detoxificationTREM2 Variants in Alzheimer's DiseaseCRISPR/Cas9-mediated gene editing in human tripronuclear zygotesAssociation claims in the sequencing eraMutations in PAX2 associate with adult-onset FSGSMutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycanAn in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy
P2860
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P2860
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
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
@ja
2010年論文
@yue
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
@ast
The Genome Analysis Toolkit: A ...... generation DNA sequencing data
@en
The Genome Analysis Toolkit: A ...... generation DNA sequencing data
@nl
type
label
The Genome Analysis Toolkit: A ...... generation DNA sequencing data
@ast
The Genome Analysis Toolkit: A ...... generation DNA sequencing data
@en
The Genome Analysis Toolkit: A ...... generation DNA sequencing data
@nl
altLabel
The Genome Analysis Toolkit: a ...... generation DNA sequencing data
@en
prefLabel
The Genome Analysis Toolkit: A ...... generation DNA sequencing data
@ast
The Genome Analysis Toolkit: A ...... generation DNA sequencing data
@en
The Genome Analysis Toolkit: A ...... generation DNA sequencing data
@nl
P2093
P2860
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The Genome Analysis Toolkit: A ...... generation DNA sequencing data
@en
P2093
Andrew Kernytsky
Andrey Sivachenko
Eric Banks
Kiran Garimella
Mark A DePristo
Matthew Hanna
P2860
P304
P3181
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10.1101/GR.107524.110
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P577
2010-09-01T00:00:00Z