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Long-Read Sequencing Improves the Detection of Structural Variations Impacting Complex Non-Coding El...

Long-Read Sequencing Improves the Detection of Structural Variations Impacting Complex Non-Coding El...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7923155

Long-Read Sequencing Improves the Detection of Structural Variations Impacting Complex Non-Coding Elements of the Genome

About this item

Full title

Long-Read Sequencing Improves the Detection of Structural Variations Impacting Complex Non-Coding Elements of the Genome

Publisher

Switzerland: MDPI

Journal title

International journal of molecular sciences, 2021-02, Vol.22 (4), p.2060

Language

English

Formats

Publication information

Publisher

Switzerland: MDPI

More information

Scope and Contents

Contents

The advent of long-read sequencing offers a new assessment method of detecting genomic structural variation (SV) in numerous rare genetic diseases. For autism spectrum disorders (ASD) cases where pathogenic variants fail to be found in the protein-coding genic regions along chromosomes, we proposed a scalable workflow to characterize the risk facto...

Alternative Titles

Full title

Long-Read Sequencing Improves the Detection of Structural Variations Impacting Complex Non-Coding Elements of the Genome

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7923155

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7923155

Other Identifiers

ISSN

1422-0067

E-ISSN

1422-0067

DOI

10.3390/ijms22042060

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