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Deciphering the complexity of simple chromosomal insertions by genome sequencing

Deciphering the complexity of simple chromosomal insertions by genome sequencing

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2486623314

Deciphering the complexity of simple chromosomal insertions by genome sequencing

About this item

Full title

Deciphering the complexity of simple chromosomal insertions by genome sequencing

Publisher

Berlin/Heidelberg: Springer Berlin Heidelberg

Journal title

Human genetics, 2021-02, Vol.140 (2), p.361-380

Language

English

Formats

Publication information

Publisher

Berlin/Heidelberg: Springer Berlin Heidelberg

More information

Scope and Contents

Contents

Chromosomal insertions are thought to be rare structural rearrangements. The current understanding of the underlying mechanisms of their origin is still limited. In this study, we sequenced 16 cases with apparent simple insertions previously identified by karyotyping and/or chromosomal microarray analysis. Using mate-pair genome sequencing (GS), we...

Alternative Titles

Full title

Deciphering the complexity of simple chromosomal insertions by genome sequencing

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_journals_2486623314

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2486623314

Other Identifiers

ISSN

0340-6717

E-ISSN

1432-1203

DOI

10.1007/s00439-020-02210-x

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