Mapping translocation breakpoints by next-generation sequencing - Wikidata - awgldk - TriplyDB

Mapping translocation breakpoints by next-generation sequencing

Mapping translocation breakpoints by next-generation sequencing

http://www.wikidata.org/entity/Q36804757

about

GROM-RD: resolving genomic biases to improve read depth detection of copy number variants BAIT: Organizing genomes and mapping rearrangements in single cells Accurate and comprehensive sequencing of personal genomes Chromosomes in the flow to simplify genome analysis dbCRID: a database of chromosomal rearrangements in human diseases Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing A universal assay for detection of oncogenic fusion transcripts by oligo microarray analysis Annotating genomes with massive-scale RNA sequencing Massively parallel sequencing: the next big thing in genetic medicine CNV-seq, a new method to detect copy number variation using high-throughput sequencing Massively-parallel sequencing of genes on a single chromosome: a comparison of solution hybrid selection and flow sorting Mapping of balanced chromosome translocation breakpoints to the basepair level from microdissected chromosomes.Probabilistic base calling of Solexa sequencing data.A transcriptional sketch of a primary human breast cancer by 454 deep sequencing Second generation sequencing of the mesothelioma tumor genome.Detection of Emerging Vaccine-Related Polioviruses by Deep Sequencing.Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research.Molecular characterization of the rare translocation t(3;10)(q26;q21) in an acute myeloid leukemia patient Detection of copy number variations in rice using array-based comparative genomic hybridization.Detecting genomic indel variants with exact breakpoints in single- and paired-end sequencing data using SplazerS.Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11 Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing.Oncogenic gene fusions in epithelial carcinomas Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease.A robust approach for blind detection of balanced chromosomal rearrangements with whole-genome low-coverage sequencing.Sequencing of a patient with balanced chromosome abnormalities and neurodevelopmental disease identifies disruption of multiple high risk loci by structural variation.Single gene disorders come into focus--again.Comparison and evaluation of two exome capture kits and sequencing platforms for variant calling Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis.A recurrent translocation is mediated by homologous recombination between HERV-H elements.Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.Contrasting origin of B chromosomes in two cervids (Siberian roe deer and grey brocket deer) unravelled by chromosome-specific DNA sequencing Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing.Reciprocal Translocation Carrier Diagnosis in Preimplantation Human Embryos.Advantages of next-generation sequencing versus the microarray in epigenetic research.Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations.Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research.Characterising chromosome rearrangements: recent technical advances in molecular cytogenetics Structural variations in plant genomes.NYC4, the rice ortholog of Arabidopsis THF1, is involved in the degradation of chlorophyll - protein complexes during leaf senescence.

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P2860

Mapping translocation breakpoints by next-generation sequencing

http://www.wikidata.org/entity/Q36804757

description

2008 nî lūn-bûn

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2008年の論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年论文

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2008年论文

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2008年论文

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name

Mapping translocation breakpoints by next-generation sequencing

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Mapping translocation breakpoints by next-generation sequencing

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type

label

Mapping translocation breakpoints by next-generation sequencing

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Mapping translocation breakpoints by next-generation sequencing

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prefLabel

Mapping translocation breakpoints by next-generation sequencing

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Mapping translocation breakpoints by next-generation sequencing

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Genome Research

P1476

Mapping translocation breakpoints by next-generation sequencing

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P2093

Andreas Dufke

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Andreas Tzschach

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Birgitta Glaeser

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Corinna Menzel

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Fikret Erdogan

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

Ger Arkesteijn

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H Hilger Ropers

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

Imma Rost

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

Isidora Lopez Pajares

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Marcel Holger Schulz

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P2860

NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects

Schizophrenia and affective disorders--cosegregation with a translocation at chromosome 1q42 that directly disrupts brain-expressed genes: clinical and P300 findings in a family.

Paired-end mapping reveals extensive structural variation in the human genome

A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain

NCBI GEO: mining tens of millions of expression profiles--database and tools update

Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia

Sequence variants in SLITRK1 are associated with Tourette's syndrome

SUMO1 haploinsufficiency leads to cleft lip and palate

De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints

Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders

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1143-1149

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10.1101/GR.076166.108

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7

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18

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Vera Kalscheuer

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2008-03-07T00:00:00Z

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5524932

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18326688

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2493403

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