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Experimental method for haplotype phasing across the entire length of chromosome 21 in trisomy 21 ce...

Experimental method for haplotype phasing across the entire length of chromosome 21 in trisomy 21 ce...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9510051

Experimental method for haplotype phasing across the entire length of chromosome 21 in trisomy 21 cells using a chromosome elimination technique

About this item

Full title

Experimental method for haplotype phasing across the entire length of chromosome 21 in trisomy 21 cells using a chromosome elimination technique

Publisher

England: Nature Publishing Group

Journal title

Journal of human genetics, 2022-10, Vol.67 (10), p.565-572

Language

English

Formats

Publication information

Publisher

England: Nature Publishing Group

More information

Scope and Contents

Contents

Modern sequencing technologies produce a single consensus sequence without distinguishing between homologous chromosomes. Haplotype phasing solves this limitation by identifying alleles on the maternal and paternal chromosomes. This information is critical for understanding gene expression models in genetic disease research. Furthermore, the haplot...

Alternative Titles

Full title

Experimental method for haplotype phasing across the entire length of chromosome 21 in trisomy 21 cells using a chromosome elimination technique

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9510051

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9510051

Other Identifiers

ISSN

1434-5161

E-ISSN

1435-232X

DOI

10.1038/s10038-022-01049-6

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