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Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome seque...

Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome seque...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_bd22b094b3d44ee8b4105e369acbce00

Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasets

About this item

Full title

Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasets

Publisher

England: BioMed Central Ltd

Journal title

BMC medical genomics, 2022-03, Vol.15 (1), p.56-56, Article 56

Language

English

Formats

Publication information

Publisher

England: BioMed Central Ltd

More information

Scope and Contents

Contents

Clinical use of genotype data requires high positive predictive value (PPV) and thorough understanding of the genotyping platform characteristics. BeadChip arrays, such as the Global Screening Array (GSA), potentially offer a high-throughput, low-cost clinical screen for known variants. We hypothesize that quality assessment and comparison to whole...

Alternative Titles

Full title

Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasets

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_bd22b094b3d44ee8b4105e369acbce00

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_bd22b094b3d44ee8b4105e369acbce00

Other Identifiers

ISSN

1755-8794

E-ISSN

1755-8794

DOI

10.1186/s12920-022-01199-8

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