Exome sequence read depth methods for identifying copy number changes-Reference-Cited by-同舟云学术

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Exome sequence read depth methods for identifying copy number changes

Published:2014-08-28 Issue:3 Volume:16 Page:380-392
ISSN:1467-5463
Container-title:Briefings in Bioinformatics
language:en
Short-container-title:Briefings in Bioinformatics

Author:

Kadalayil L.,Rafiq S.,Rose-Zerilli M. J. J.,Pengelly R. J.,Parker H.,Oscier D.,Strefford J. C.,Tapper W. J.,Gibson J.,Ennis S.,Collins A.

Publisher

Oxford University Press (OUP)

Subject

Molecular Biology,Information Systems

Link

http://academic.oup.com/bib/article-pdf/16/3/380/678432/bbu027.pdf

Reference38 articles.

1. Exome sequencing as a tool for Mendelian disease gene discovery

2. Copy number variants in pharmacogenetic genes

3. Segmental Duplications and Copy-Number Variation in the Human Genome

4. Population-genetic nature of copy number variations in the human genome

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1. Enhancing clinical genomic accuracy with panelGC: a novel metric and tool for quantifying and monitoring GC biases in hybridization capture panel sequencing;Briefings in Bioinformatics;2024-07-25

2. Clinical utility of regions of homozygosity (ROH) identified in exome sequencing: when to pursue confirmatory uniparental disomy testing for imprinting disorders?;Clinical Chemistry and Laboratory Medicine (CCLM);2024-07-19

3. Benchmarking of Germline Copy Number Variant Callers from Whole Genome Sequencing Data for Clinical Applications;2024-07-17

4. A novel method for simultaneous detection of hematological tumors and infectious pathogens by metagenomic next generation sequencing of plasma;Clinica Chimica Acta;2024-04

5. OTSUCNV: an adaptive segmentation and OTSU-based anomaly classification method for CNV detection using NGS data;BMC Genomics;2024-01-30

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