Chapter 6: Structural variation and medical genomics.

Differences between individual human genomes, or between human and cancer genomes, range in scale from single nucleotide variants (SNVs) through intermediate and large-scale duplications, deletions, and rearrangements of genomic segments. The latter class, called structural variants (SVs), have rece...

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Autor principal:	Benjamin J Raphael
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2012
Materias:	Biology (General) QH301-705.5
Acceso en línea:	https://doaj.org/article/686aaa06723d4b62b9c1938ad63ad14c
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spelling	oai:doaj.org-article:686aaa06723d4b62b9c1938ad63ad14c2021-11-18T05:52:36ZChapter 6: Structural variation and medical genomics.1553-734X1553-735810.1371/journal.pcbi.1002821https://doaj.org/article/686aaa06723d4b62b9c1938ad63ad14c2012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23300412/?tool=EBIhttps://doaj.org/toc/1553-734Xhttps://doaj.org/toc/1553-7358Differences between individual human genomes, or between human and cancer genomes, range in scale from single nucleotide variants (SNVs) through intermediate and large-scale duplications, deletions, and rearrangements of genomic segments. The latter class, called structural variants (SVs), have received considerable attention in the past several years as they are a previously under appreciated source of variation in human genomes. Much of this recent attention is the result of the availability of higher-resolution technologies for measuring these variants, including both microarray-based techniques, and more recently, high-throughput DNA sequencing. We describe the genomic technologies and computational techniques currently used to measure SVs, focusing on applications in human and cancer genomics.Benjamin J RaphaelPublic Library of Science (PLoS)articleBiology (General)QH301-705.5ENPLoS Computational Biology, Vol 8, Iss 12, p e1002821 (2012)
institution	DOAJ
collection	DOAJ
language	EN
topic	Biology (General) QH301-705.5
spellingShingle	Biology (General) QH301-705.5 Benjamin J Raphael Chapter 6: Structural variation and medical genomics.
description	Differences between individual human genomes, or between human and cancer genomes, range in scale from single nucleotide variants (SNVs) through intermediate and large-scale duplications, deletions, and rearrangements of genomic segments. The latter class, called structural variants (SVs), have received considerable attention in the past several years as they are a previously under appreciated source of variation in human genomes. Much of this recent attention is the result of the availability of higher-resolution technologies for measuring these variants, including both microarray-based techniques, and more recently, high-throughput DNA sequencing. We describe the genomic technologies and computational techniques currently used to measure SVs, focusing on applications in human and cancer genomics.
format	article
author	Benjamin J Raphael
author_facet	Benjamin J Raphael
author_sort	Benjamin J Raphael
title	Chapter 6: Structural variation and medical genomics.
title_short	Chapter 6: Structural variation and medical genomics.
title_full	Chapter 6: Structural variation and medical genomics.
title_fullStr	Chapter 6: Structural variation and medical genomics.
title_full_unstemmed	Chapter 6: Structural variation and medical genomics.
title_sort	chapter 6: structural variation and medical genomics.
publisher	Public Library of Science (PLoS)
publishDate	2012
url	https://doaj.org/article/686aaa06723d4b62b9c1938ad63ad14c
work_keys_str_mv	AT benjaminjraphael chapter6structuralvariationandmedicalgenomics
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Chapter 6: Structural variation and medical genomics.

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