Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing.
about
Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disordersA comparative analysis of exome captureA mosaic activating mutation in AKT1 associated with the Proteus syndromeAccurate and comprehensive sequencing of personal genomesMutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenanceVarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencingExome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growthThree-stage quality control strategies for DNA re-sequencing dataThree rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivityUsing VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiencyGenomic resources for the endangered Hawaiian honeycreepersComparison of three targeted enrichment strategies on the SOLiD sequencing platformVariants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar DisorganizationFirst insight into the somatic mutation burden of neurofibromatosis type 2-associated grade I and grade II meningiomas: a case report comprehensive genomic study of two cranial meningiomas with vastly different clinical presentation.High-throughput gene targeting and phenotyping in zebrafish using CRISPR/Cas9.Massively-parallel sequencing of genes on a single chromosome: a comparison of solution hybrid selection and flow sortingHigh-throughput detection of actionable genomic alterations in clinical tumor samples by targeted, massively parallel sequencingThe implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experienceUsing exome data to identify malignant hyperthermia susceptibility mutations.Evaluation of variant detection software for pooled next-generation sequence dataComputational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data.An NGS Workflow Blueprint for DNA Sequencing Data and Its Application in Individualized Molecular Oncology.Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropeniaPerformance of microarray and liquid based capture methods for target enrichment for massively parallel sequencing and SNP discovery.Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndromeNext-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research.The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases.Genomic approaches for the discovery of genes mutated in inherited retinal degeneration.A bioinformatics approach for determining sample identity from different lanes of high-throughput sequencing data.An enhancer polymorphism at the cardiomyocyte intercalated disc protein NOS1AP locus is a major regulator of the QT interval.Comparison of solution-based exome capture methods for next generation sequencingA method for metagenomics of Helicobacter pylori from archived formalin-fixed gastric biopsies permitting longitudinal studies of carcinogenic risk.Multiplexed array-based and in-solution genomic enrichment for flexible and cost-effective targeted next-generation sequencing.Cost-effective, high-throughput DNA sequencing libraries for multiplexed target capture.Application and comparison of large-scale solution-based DNA capture-enrichment methods on ancient DNA.Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration.A defined zebrafish line for high-throughput genetics and genomics: NHGRI-1A candidate gene for autoimmune myasthenia gravis.Consensus rules in variant detection from next-generation sequencing data
P2860
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P2860
Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing.
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
Systematic comparison of three ...... ively parallel DNA sequencing.
@ast
Systematic comparison of three ...... ively parallel DNA sequencing.
@en
Systematic comparison of three ...... ively parallel DNA sequencing.
@nl
type
label
Systematic comparison of three ...... ively parallel DNA sequencing.
@ast
Systematic comparison of three ...... ively parallel DNA sequencing.
@en
Systematic comparison of three ...... ively parallel DNA sequencing.
@nl
prefLabel
Systematic comparison of three ...... ively parallel DNA sequencing.
@ast
Systematic comparison of three ...... ively parallel DNA sequencing.
@en
Systematic comparison of three ...... ively parallel DNA sequencing.
@nl
P2093
P2860
P50
P356
P1433
P1476
Systematic comparison of three ...... ively parallel DNA sequencing.
@en
P2093
Amy J Swift
Elliott H Margulies
Hatice Ozel Abaan
Jamie K Teer
Nancy F Hansen
Natsuyo Aoyama
Peter S Chines
Thomas J Albert
P2860
P304
P356
10.1101/GR.106716.110
P50
P577
2010-09-01T00:00:00Z