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Long contiguous stretches of homozygosity detected by chromosomal microarrays (CMA) in patients with...

Long contiguous stretches of homozygosity detected by chromosomal microarrays (CMA) in patients with...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_f938e8a1253c47ea91e1b74323af03be

Long contiguous stretches of homozygosity detected by chromosomal microarrays (CMA) in patients with neurodevelopmental disorders in the South of Brazil

About this item

Full title

Long contiguous stretches of homozygosity detected by chromosomal microarrays (CMA) in patients with neurodevelopmental disorders in the South of Brazil

Publisher

England: BioMed Central Ltd

Journal title

BMC medical genomics, 2019-03, Vol.12 (1), p.50-50, Article 50

Language

English

Formats

Publication information

Publisher

England: BioMed Central Ltd

More information

Scope and Contents

Contents

Currently, chromosomal microarrays (CMA) are recommended as first-tier test in the investigation of developmental disorders to examine copy number variations. The modern platforms also include probes for single nucleotide polymorphisms (SNPs) that detect homozygous regions in the genome, such as long contiguous stretches of homozygosity (LCSH) also...

Alternative Titles

Full title

Long contiguous stretches of homozygosity detected by chromosomal microarrays (CMA) in patients with neurodevelopmental disorders in the South of Brazil

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_f938e8a1253c47ea91e1b74323af03be

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_f938e8a1253c47ea91e1b74323af03be

Other Identifiers

ISSN

1755-8794

E-ISSN

1755-8794

DOI

10.1186/s12920-019-0496-5

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