Comparison of solution-based exome capture methods for next generation sequencing
about
The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasiaA novel GUSB mutation in Brazilian terriers with severe skeletal abnormalities defines the disease as mucopolysaccharidosis VIIIntegrating next-generation sequencing into clinical oncology: strategies, promises and pitfallsRecurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberEstimating exome genotyping accuracy by comparing to data from large scale sequencing projects.Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches.Finding the lost treasures in exome sequencing data.Large scale comparison of non-human sequences in human sequencing data.Comparison among three variant callers and assessment of the accuracy of imputation from SNP array data to whole-genome sequence level in chicken.Enhanced copy number variants detection from whole-exome sequencing data using EXCAVATOR2TUFT1, a novel candidate gene for metatarsophalangeal osteoarthritis, plays a role in chondrogenesis on a calcium-related pathwayRare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma.Novel metrics to measure coverage in whole exome sequencing datasets reveal local and global non-uniformity.A balanced translocation truncates Neurotrimin in a family with intracranial and thoracic aortic aneurysmClinical Genomics: Challenges and OpportunitiesDesign and development of exome capture sequencing for the domestic pig (Sus scrofa).Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy.MIPgen: optimized modeling and design of molecular inversion probes for targeted resequencing.Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiencyAssessing the enrichment performance in targeted resequencing experiments.Next-generation sequencing of colorectal cancers in chinese: identification of a recurrent frame-shift and gain-of-function Indel mutation in the TFDP1 geneMutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.Gene discovery in familial cancer syndromes by exome sequencing: prospects for the elucidation of familial colorectal cancer type X.Molecular genetic testing and the future of clinical genomics.Sequencing depth and coverage: key considerations in genomic analyses.Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3.IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies.High throughput exome coverage of clinically relevant cardiac genes.Quantifying single nucleotide variant detection sensitivity in exome sequencingComparison of custom capture for targeted next-generation DNA sequencingTowards clinical molecular diagnosis of inherited cardiac conditions: a comparison of bench-top genome DNA sequencersFine-mapping the 2q37 and 17q11.2-q22 loci for novel genes and sequence variants associated with a genetic predisposition to prostate cancerPerformance comparison of four exome capture systems for deep sequencing.Variant detection sensitivity and biases in whole genome and exome sequencing.Mung bean nuclease treatment increases capture specificity of microdroplet-PCR based targeted DNA enrichmentComprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisionsThe impact of DNA input amount and DNA source on the performance of whole-exome sequencing in cancer epidemiologyTargeted resequencing of the pericentromere of chromosome 2 linked to constitutional delay of growth and puberty.Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome SequencingReproducibility of Variant Calls in Replicate Next Generation Sequencing Experiments.
P2860
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P2860
Comparison of solution-based exome capture methods for next generation sequencing
description
2011 nî lūn-bûn
@nan
2011 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի սեպտեմբերին 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
Comparison of solution-based exome capture methods for next generation sequencing
@ast
Comparison of solution-based exome capture methods for next generation sequencing
@en
Comparison of solution-based exome capture methods for next generation sequencing
@nl
type
label
Comparison of solution-based exome capture methods for next generation sequencing
@ast
Comparison of solution-based exome capture methods for next generation sequencing
@en
Comparison of solution-based exome capture methods for next generation sequencing
@nl
prefLabel
Comparison of solution-based exome capture methods for next generation sequencing
@ast
Comparison of solution-based exome capture methods for next generation sequencing
@en
Comparison of solution-based exome capture methods for next generation sequencing
@nl
P2093
P2860
P50
P356
P1433
P1476
Comparison of solution-based exome capture methods for next generation sequencing
@en
P2093
Anna-Maija Sulonen
Anu Suomalainen
Caroline Heckman
Henrikki Almusa
Perttu Salo
Sari Hannula
Timo Miettinen
P2860
P2888
P356
10.1186/GB-2011-12-9-R94
P577
2011-09-28T00:00:00Z
P5875
P6179
1028092143