Results 271 to 280 of about 227,823 (308)
Some of the next articles are maybe not open access.
Dermatitis, 2013
Our goal is to highlight annually a methodology of significance to the journal's domains, either because it has been used clinically or researchwise for our fields of interest or because it holds promise as a tool in diagnosing, treating, or investigating corresponding diseases.We hope another strength of this new section is simplicity of language that
Donald A, Glass, And Anthony A, Nuara
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Our goal is to highlight annually a methodology of significance to the journal's domains, either because it has been used clinically or researchwise for our fields of interest or because it holds promise as a tool in diagnosing, treating, or investigating corresponding diseases.We hope another strength of this new section is simplicity of language that
Donald A, Glass, And Anthony A, Nuara
openaire +2 more sources
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, 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, Mardis, W Richard, McCombie
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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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2022
We identified a novel de novo heterozygous nonsense variation of KDM5C (c.3533C>A, p.S1178X) in a sporadic 4-year-old Chinese ...
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We identified a novel de novo heterozygous nonsense variation of KDM5C (c.3533C>A, p.S1178X) in a sporadic 4-year-old Chinese ...
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Exome Sequencing by Targeted Enrichment
Current Protocols in Molecular Biology, 2013AbstractThis unit describes methods for targeted enrichment of the exonâcoding 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 James, Clark +2 more
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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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