A framework for variation discovery and genotyping using next-generation DNA sequencing data
about
Genomic evidence for island population conversion resolves conflicting theories of polar bear evolutionDouble digest RADseq: an inexpensive method for de novo SNP discovery and genotyping in model and non-model speciesGenomic identification of founding haplotypes reveals the history of the selfing species Capsella rubellaGROM-RD: resolving genomic biases to improve read depth detection of copy number variantsCryptococcus gattii VGIII isolates causing infections in HIV/AIDS patients in Southern California: identification of the local environmental source as arborealDevelopment 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 sequencingNext-generation sequencing identifies transportin 3 as the causative gene for LGMD1FTargeted next-generation sequencing of head and neck squamous cell carcinoma identifies novel genetic alterations in HPV+ and HPV- tumorsHuman genetics and genomics a decade after the release of the draft sequence of the human genomeGeneration 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 dardanusCustomisation of the exome data analysis pipeline using a combinatorial approachLUMPY: a probabilistic framework for structural variant discovery.The genomic landscape underlying phenotypic integrity in the face of gene flow in crowsSequencing Y chromosomes resolves discrepancy in time to common ancestor of males versus femalesIntegrative annotation of variants from 1092 humans: application to cancer genomicsLinked selection and recombination rate variation drive the evolution of the genomic landscape of differentiation across the speciation continuum of Ficedula flycatchersSequencing pools of individuals — mining genome-wide polymorphism data without big fundingRepetitive DNA and next-generation sequencing: computational challenges and solutionsSpider genomes provide insight into composition and evolution of venom and silkTREM2 Variants in Alzheimer's DiseaseMedical implications of technical accuracy in genome sequencingWorldwide patterns of genomic variation and admixture in gray wolvesAssociation claims in the sequencing eraRapid draft sequencing and real-time nanopore sequencing in a hospital outbreak of SalmonellaMutations in PAX2 associate with adult-onset FSGSCLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegenerationA form of the metabolic syndrome associated with mutations in DYRK1BTNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathyThe oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxiaJAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropeniaLoss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegiaMutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repairSAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in GoosecoidExome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese familyISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndromeCombined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney DiseaseDe novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood
P2860
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P2860
A framework for variation discovery and genotyping using next-generation DNA sequencing data
description
2011 nî lūn-bûn
@nan
2011 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
A framework for variation disc ...... generation DNA sequencing data
@ast
A framework for variation disc ...... generation DNA sequencing data
@en
type
label
A framework for variation disc ...... generation DNA sequencing data
@ast
A framework for variation disc ...... generation DNA sequencing data
@en
prefLabel
A framework for variation disc ...... generation DNA sequencing data
@ast
A framework for variation disc ...... generation DNA sequencing data
@en
P2093
P2860
P50
P3181
P356
P1433
P1476
A framework for variation disc ...... generation DNA sequencing data
@en
P2093
Cibulskis K
DePristo MA
Fennell TJ
Garimella KV
Kernytsky AM
Maguire JR
P2860
P2888
P3181
P356
10.1038/NG.806
P407
P577
2011-05-01T00:00:00Z
P5875
P6179
1010244476