Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping.
about
The second decade of 3C technologies: detailed insights into nuclear organizationEfficient mapping of transgene integration sites and local structural changes in Cre transgenic mice using targeted locus amplification.Extensive phenotypic characterization of a new transgenic mouse reveals pleiotropic perturbations in physiology due to mesenchymal hGH minigene expression.Contact genomics: scaffolding and phasing (meta)genomes using chromosome 3D physical signatures.Genome-wide mapping and analysis of chromosome architecture.Flagellin-induced NLRC4 phosphorylation primes the inflammasome for activation by NAIP5Comparison of Hi-C results using in-solution versus in-nucleus ligationComplete haplotype phasing of the MHC and KIR loci with targeted HaploSeq.Microfluidic droplet enrichment for targeted sequencing.Haplotyping germline and cancer genomes with high-throughput linked-read sequencingTargeted Locus Amplification and Next-Generation Sequencing.Guidelines for cytogenetic investigations in tumours.Haplotype-resolved genome sequencing: experimental methods and applications.New Mammalian Expression Systems.Applications of CRISPR genome editing technology in drug target identification and validation.Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay.Activating ESR1 Mutations Differentially Affect the Efficacy of ER Antagonists.A transgenic mouse expressing CHMP2Bintron5 mutant in neurons develops histological and behavioural features of amyotrophic lateral sclerosis and frontotemporal dementia.Targeting a CAR to the TRAC locus with CRISPR/Cas9 enhances tumour rejection.Mechanisms of Therapy Resistance in Patient-Derived Xenograft Models of BRCA1-Deficient Breast Cancer.Recent Advances in Experimental Whole Genome Haplotyping Methods.Genetic and epigenetic features direct differential efficiency of Xist-mediated silencing at X-chromosomal and autosomal locations.Co-barcoded sequence reads from long DNA fragments: a cost-effective solution for "perfect genome" sequencing.X chromosome inactivation in a female carrier of a 1.28 Mb deletion encompassing the human X inactivation centre.Tyrosine kinase fusion genes in pediatric BCR-ABL1-like acute lymphoblastic leukemia.Comprehensive translocation and clonality detection in lymphoproliferative disorders by next-generation sequencing.Three-dimensional genome architecture and emerging technologies: looping in disease.The integration site of the APP transgene in the J20 mouse model of Alzheimer's disease.Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome.Lineage-specific functions of TET1 in the postimplantation mouse embryo.Gathering by the Red Sea highlights links between environment and epigenetics.A novel mouse model of rhabdomyosarcoma underscores the dichotomy of MDM2-ALT1 function in vivo.Dense and accurate whole-chromosome haplotyping of individual genomes.cfDNA screening and diagnosis of monogenic disorders - where are we heading?Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping.Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study.3C-PCR: a novel proximity ligation-based approach to phase chromosomal rearrangement breakpoints with distal allelic variants.Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.Transgenic animals and genetic engineering techniques. Nantes, France, 2-3 July, 2015.Deep sequencing reveals different compositions of mRNA transcribed from the F8 gene in a panel of FVIII-producing CHO cell lines.
P2860
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P2860
Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
2014年论文
@zh
2014年论文
@zh-cn
name
Targeted sequencing by proximi ...... tection and local haplotyping.
@en
Targeted sequencing by proximi ...... tection and local haplotyping.
@nl
type
label
Targeted sequencing by proximi ...... tection and local haplotyping.
@en
Targeted sequencing by proximi ...... tection and local haplotyping.
@nl
prefLabel
Targeted sequencing by proximi ...... tection and local haplotyping.
@en
Targeted sequencing by proximi ...... tection and local haplotyping.
@nl
P2093
P2860
P50
P356
P1433
P1476
Targeted sequencing by proximi ...... etection and local haplotyping
@en
P2093
Ans van den Ouweland
Atze T Das
Ben Berkhout
Birgit Sikkema-Raddatz
Desiree Weening
Erik Splinter
Eva van den Berg
Hans Kristian Ploos van Amstel
Hans Teunissen
Johan T den Dunnen
P2860
P2888
P304
P356
10.1038/NBT.2959
P577
2014-08-17T00:00:00Z