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Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing.

Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing.

http://www.wikidata.org/entity/Q34153640

about

Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders A comparative analysis of exome capture A mosaic activating mutation in AKT1 associated with the Proteus syndrome Accurate and comprehensive sequencing of personal genomes Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth Three-stage quality control strategies for DNA re-sequencing data Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency Genomic resources for the endangered Hawaiian honeycreepers Comparison of three targeted enrichment strategies on the SOLiD sequencing platform Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization First 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 sorting High-throughput detection of actionable genomic alterations in clinical tumor samples by targeted, massively parallel sequencing The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience Using exome data to identify malignant hyperthermia susceptibility mutations.Evaluation of variant detection software for pooled next-generation sequence data Computational 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 neutropenia Performance 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 syndrome Next-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 sequencing A 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-1 A candidate gene for autoimmune myasthenia gravis.Consensus rules in variant detection from next-generation sequencing data

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Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing.

http://www.wikidata.org/entity/Q34153640

description

2010 nî lūn-bûn

@nan

2010 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

@zh-hk

2010年論文

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2010年論文

@zh-tw

2010年论文

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name

Systematic comparison of three ...... ively parallel DNA sequencing.

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Systematic comparison of three ...... ively parallel DNA sequencing.

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Systematic comparison of three ...... ively parallel DNA sequencing.

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type

label

Systematic comparison of three ...... ively parallel DNA sequencing.

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Systematic comparison of three ...... ively parallel DNA sequencing.

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Systematic comparison of three ...... ively parallel DNA sequencing.

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prefLabel

Systematic comparison of three ...... ively parallel DNA sequencing.

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Systematic comparison of three ...... ively parallel DNA sequencing.

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Systematic comparison of three ...... ively parallel DNA sequencing.

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Genome Research

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Systematic comparison of three ...... ively parallel DNA sequencing.

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P2093

Amy J Swift

http://www.w3.org/2001/XMLSchema#string

Elliott H Margulies

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Hatice Ozel Abaan

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Jamie K Teer

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Nancy F Hansen

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Natsuyo Aoyama

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Peter S Chines

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Thomas J Albert

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P2860

Genome sequencing in microfabricated high-density picolitre reactors

Accurate whole human genome sequencing using reversible terminator chemistry

A comprehensive assay for targeted multiplex amplification of human DNA sequences

Multiplex amplification of large sets of human exons

Accurate multiplex polony sequencing of an evolved bacterial genome

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

Genome-wide in situ exon capture for selective resequencing

Hybrid selection of discrete genomic intervals on custom-designed microarrays for massively parallel sequencing

Microdroplet-based PCR enrichment for large-scale targeted sequencing.

Massively parallel exon capture and library-free resequencing across 16 genomes.

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1420-1431

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scholarly article

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10.1101/GR.106716.110

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10

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P478

20

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Francis Collins

NISC Comparative Sequencing Program

Leslie G Biesecker

James C Mullikin

Lori L Bonnycastle

P577

2010-09-01T00:00:00Z

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46110385

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20810667

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2945191

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