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Exome Sequencing by Targeted Enrichment
Current Protocols in Molecular Biology, 2013AbstractThis unit describes methods for targeted enrichment of the exon‐coding portions of the genome using Agilent SureSelect Human All Exon 50 Mb and Roche Nimblegen SeqCap EZ Exome platforms. Each platform targets and enriches a large overlapping portion of the greater human exome.
Michael J. Clark +2 more
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Cold Spring Harbor Protocols, 2016
This protocol describes the construction of a paired-end library of genomic DNA (gDNA) and subsequent capture of specific regions of a genome using NimbleGen sequence capture probes and Illumina TruSeq oligos. The captured DNA, purified and quantitated, is appropriate for use as template in Illumina sequencing systems.
Elaine R. Mardis, W. Richard McCombie
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This protocol describes the construction of a paired-end library of genomic DNA (gDNA) and subsequent capture of specific regions of a genome using NimbleGen sequence capture probes and Illumina TruSeq oligos. The captured DNA, purified and quantitated, is appropriate for use as template in Illumina sequencing systems.
Elaine R. Mardis, W. Richard McCombie
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2013
This study evaluated the performance of BGISEQ-500 on WES by comparison with Hiseq4000, on well-characterized human sample ...
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This study evaluated the performance of BGISEQ-500 on WES by comparison with Hiseq4000, on well-characterized human sample ...
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Diagnostic Clinical Genome and Exome Sequencing [PDF]
New England Journal of Medicine, 2014 n engl j med 371;12 nejm.org september 18, 2014 1169 not. This suggests that differences with previous studies may be explained by residual confounding in those studies. Our study addresses only one piece of the complex risk–benefit equation of antidepressant use in pregnancy, during which other risks associated with antidepressant use have been well ...
Frank L.J. Visseren +2 more
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Science Signaling, 2013
Gene sequencing of unrelated patients with recurrent airway infections identifies a common underlying mutation.
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Gene sequencing of unrelated patients with recurrent airway infections identifies a common underlying mutation.
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Fetal Exome Sequencing on the Horizon
Journal of Obstetrics and Gynaecology Canada, 2019Prenatal whole exome sequencing has recently been introduced. It is evolving and although not currently ready for everyday clinical practice, it will likely become part of the diagnostic arsenal available to clinicians caring for couples carrying a pregnancy for which fetal anomalies have been identified.
Karen Wou +4 more
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Application of targeted exome and whole‐exome sequencing for Chinese families with Stargardt disease
Annals of Human Genetics, 2019AbstractObjectiveThe aim of this study was to investigate pathogenic variants and molecular etiologies of Stargardt disease (STGD) in a cohort of Chinese families.Materials and MethodsA cohort of 12 unrelated STGD families diagnosed on the basis of clinical manifestations underwent analysis by targeted exome or whole‐exome sequencing.
Handong Dan +3 more
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Exome diagnostics: already a reality?
Journal of Medical Genetics, 2011The power of massively parallel sequencing (MPS) combined with target enrichment technologies has led, in the space of barely 2 years, to a true revolution in our ability to explore the genome for sequence changes responsible for phenotypes of interest.
Constantin Polychronakos, Ku Chee Seng
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