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Target enrichment long-read sequencing with adaptive sampling can determine the structure of the sma...

Target enrichment long-read sequencing with adaptive sampling can determine the structure of the sma...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2620079176

Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes

About this item

Full title

Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes

Publisher

England: Nature Publishing Group

Journal title

Journal of human genetics, 2022-06, Vol.67 (6), p.363-368

Language

English

Formats

Publication information

Publisher

England: Nature Publishing Group

More information

Scope and Contents

Contents

Structural analysis of small supernumerary marker chromosomes (sSMCs) has revealed that many have complex structures. Structural analysis of sSMCs by whole genome sequencing using short-read sequencers is challenging however because most present with a low level of mosaicism and consist of a small region of the involved chromosome. In this present...

Alternative Titles

Full title

Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_2620079176

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2620079176

Other Identifiers

ISSN

1434-5161

E-ISSN

1435-232X

DOI

10.1038/s10038-021-01004-x

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