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Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagno...

Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagno...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7042067

Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis

About this item

Full title

Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis

Publisher

New York: Elsevier Inc

Journal title

Genetics in medicine, 2020-03, Vol.22 (3), p.500-510

Language

English

Formats

Publication information

Publisher

New York: Elsevier Inc

More information

Scope and Contents

Contents

Emerging studies suggest that low-pass genome sequencing (GS) provides additional diagnostic yield of clinically significant copy-number variants (CNVs) compared with chromosomal microarray analysis (CMA). However, a prospective back-to-back comparison evaluating accuracy, efficacy, and incremental yield of low-pass GS compared with CMA is warrante...

Alternative Titles

Full title

Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7042067

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7042067

Other Identifiers

ISSN

1098-3600

E-ISSN

1530-0366

DOI

10.1038/s41436-019-0634-7

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