Results 221 to 230 of about 118,150 (263)

Whole Exome Sequencing

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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Whole-exome sequencing

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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Exome Sequencing by Targeted Enrichment

Current Protocols in Molecular Biology, 2013
AbstractThis 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 James, Clark, Rui, Chen, Michael, Snyder   +2 more
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HBV exome sequencing

2014
identify variants predisposing to chronic hepatitis B.
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Prenatal whole‐exome sequencing: parental attitudes

Prenatal Diagnosis, 2015
AbstractObjectiveThe aim of this study was to survey the opinions of expectant parents regarding prenatal whole‐exome sequencing.MethodsThe study used a questionnaire that focused on acceptability of prenatal whole‐exome sequencing to individuals who pursued first‐trimester prenatal screening in a tertiary academic medical center.
Eve J, Kalynchuk, Andrew, Althouse, Lisa S, Parker, Devereux N, Saller, Aleksandar, Rajkovic   +4 more
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Whole-Exome/Genome Sequencing and Genomics

Pediatrics, 2013
As medical genetics has progressed from a descriptive entity to one focused on the functional relationship between genes and clinical disorders, emphasis has been placed on genomics. Genomics, a subelement of genetics, is the study of the genome, the sum total of all the genes of an organism.
Wayne W, Grody, Barry H, Thompson, Louanne, Hudgins   +2 more
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Exome Sequencing Data Analysis

2019
Whole exome sequencing, owing to its low cost and computational burden, has become the standard for causal gene detection in disease and treatment management. This article provides a brief overview of exome data generation and discusses the computational pipeline involved in utilizing exome sequencing data to identify specific variants, as well as its ...
Sathyanarayanan, Anita, Manda, Srikanth, Poojary, Mukta, Nagaraj, Shivashankar H.   +3 more
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Computational Analysis in Cancer Exome Sequencing

2014
Exome sequencing in cancer is a powerful tool for identifying mutational events across the coding region of human genes. Here, we describe computational methods that use exome sequencing reads from cancer samples to identify somatic single nucleotide variants (SNVs), copy number alterations, and short insertions and deletions (InDels).
Perry, Evans, Yong, Kong, Michael, Krauthammer   +2 more
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Short Read Mapping for Exome Sequencing

2013
Mapping short reads to the reference genome is very often the prerequisite for applications utilizing the next-generation sequencing technologies. A dozen of software tools developed for this purpose have been widely used. But many practical issues remained when utilizing them to build a computational pipeline for downstream analyses.
Zhang, X, Bao, S, Zhou, X, Wang, BB, Song, Y   +4 more
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