Sequence variants

Differences at specific positions between two aligned sequences. Variants include single-nucleotide polymorphisms (SNPs), insertions and deletions, copy number variants, and structural rearrangements. In NGS, variants are found after alignment of sequence reads to a reference genome. A variant may be observed as a single mismatched base in a single sequence read, or it may be confirmed by variant detection software from multiple sources of data.

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References
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Authors s
PublicationTitle Glossary of Sequencing Terms
PublicationType Website
PublicationYear Accessed: 16.05.2019
Publisher DNA Link Sequencing Lab
Website https://www.dnalinkseqlab.com/glossary/
ZoteroURL https://www.zotero.org/groups/2344323/orion/items/itemKey/YAPAR7FS
Glossary Term Classification
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Category Data processing and analysis; Sampling and Laboratory testing
ModifiedDefinition false
Sector Shared Definition
Additional Info
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Provided by: EJP ORION project
system:type GlossaryTerm
Management Info
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Author taras_guenther
Last Updated 29 April 2020, 02:21 (CEST)
Created 3 September 2019, 13:18 (CEST)