Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples.
about
Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancerCharacterization of a de novo SCN8A mutation in a patient with epileptic encephalopathyOvarian cancer cell line panel (OCCP): clinical importance of in vitro morphological subtypesA next-generation sequencing method for genotyping-by-sequencing of highly heterozygous autotetraploid potato.High-throughput detection of actionable genomic alterations in clinical tumor samples by targeted, massively parallel sequencingInsertionMapper: a pipeline tool for the identification of targeted sequences from multidimensional high throughput sequencing data.Identification of factors required for meristem function in Arabidopsis using a novel next generation sequencing fast forward genetics approach.Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research.Discovery of rare mutations in populations: TILLING by sequencing.Targeted isolation of cloned genomic regions by recombineering for haplotype phasing and isogenic targeting.Multiplexed array-based and in-solution genomic enrichment for flexible and cost-effective targeted next-generation sequencing.Discovery of variants unmasked by hemizygous deletions.Cost-effective, high-throughput DNA sequencing libraries for multiplexed target capture.Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.Synteny-based mapping-by-sequencing enabled by targeted enrichment.Solution-based targeted genomic enrichment for precious DNA samples.Improving mapping and SNP-calling performance in multiplexed targeted next-generation sequencing.Pre-capture multiplexing improves efficiency and cost-effectiveness of targeted genomic enrichment.Population-based rare variant detection via pooled exome or custom hybridization capture with or without individual indexingMEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease.Discovery of rare mutations in extensively pooled DNA samples using multiple target enrichment.Genomic DNA pooling strategy for next-generation sequencing-based rare variant discovery in abdominal aortic aneurysm regions of interest-challenges and limitationsAccurate detection of subclonal single nucleotide variants in whole genome amplified and pooled cancer samples using HaloPlex target enrichment.Efficient Genome-Wide Detection and Cataloging of EMS-Induced Mutations Using Exome Capture and Next-Generation Sequencing.Novel sequencing-based strategies for high-throughput discovery of genetic mutations underlying inherited antibody deficiency disordersExon capture optimization in amphibians with large genomes.Rare variant discovery and calling by sequencing pooled samples with overlapsFrom a single whole exome read to notions of clinical screening: primary ciliary dyskinesia and RSPH9 p.Lys268del in the Arabian Peninsula.Targeted Capture of Complete Coding Regions across Divergent Species.Next generation quantitative genetics in plantsThe quest for rare variants: pooled multiplexed next generation sequencing in plants.Next-generation sequencing for research and diagnostics in kidney disease.Genetic Modifier Screens in Mice.Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease.Reduced serpinB9-mediated caspase-1 inhibition can contribute to autoinflammatory disease.Inferring the evolution of the major histocompatibility complex of wild pigs and peccaries using hybridisation DNA capture-based sequencing.Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.Cost-effective multiplexing before capture allows screening of 25 000 clinically relevant SNPs in childhood acute lymphoblastic leukemiaIntroduction and Historical Overview of DNA Sequencing
P2860
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P2860
Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples.
description
2010 nî lūn-bûn
@nan
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
2010年论文
@zh
2010年论文
@zh-cn
name
Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples.
@en
Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples.
@nl
type
label
Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples.
@en
Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples.
@nl
prefLabel
Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples.
@en
Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples.
@nl
P2093
P2860
P356
P1433
P1476
Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples.
@en
P2093
Edwin Cuppen
Ewart de Bruijn
Isaäc J Nijman
Pim Toonen
P2860
P2888
P304
P356
10.1038/NMETH.1516
P577
2010-10-17T00:00:00Z