Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice.

Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice.

Item
http://www.wikidata.org/entity/Q35518233
Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in UbiquitinationCRISPR/Cas9 mediated knockout of rb1 and rbl1 leads to rapid and penetrant retinoblastoma development in Xenopus tropicalisBATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment.Simultaneous human platelet antigen genotyping and detection of novel single nucleotide polymorphisms by targeted next-generation sequencing.A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscapeMutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian FamiliesBRCA1, BRCA2 and PALB2 mutations and CHEK2 c.1100delC in different South African ethnic groups diagnosed with premenopausal and/or triple negative breast cancerProfiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape.panelcn.MOPS: Copy-number detection in targeted NGS panel data for clinical diagnostics.Targeted resequencing and variant validation using pxlence PCR assaysIncreased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutationGenes associated with common variable immunodeficiency: one diagnosis to rule them all?A 3-bp Deletion VK600-1E in the BRAF Gene Detected in a Young Woman with Papillary Thyroid Carcinoma.Phenylketonuria: A new look at an old topic, advances in laboratory diagnosis, and therapeutic strategies.CRISPR/Cas9-mediated genome editing in naïve human embryonic stem cells.Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development.
P2860

Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice.

Item
http://www.wikidata.org/entity/Q35518233
description
2015 nî lūn-bûn
@nan
2015 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի մարտին հրատարակված գիտական հոդված
@hy
2015年の論文
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2015年論文
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2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
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2015年论文
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name
Flexible, scalable, and effici ...... etection in clinical practice.
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Flexible, scalable, and effici ...... etection in clinical practice.
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Flexible, scalable, and effici ...... etection in clinical practice.
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Flexible, scalable, and effici ...... etection in clinical practice.
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Flexible, scalable, and effici ...... etection in clinical practice.
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Flexible, scalable, and effici ...... etection in clinical practice.
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Flexible, scalable, and effici ...... etection in clinical practice.
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P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698