STRipy: A graphical application for enhanced genotyping of pathogenic short tandem repeats in sequencing data.

Authors:
Halman A; Dolzhenko E; Oshlack A.

Journal:
Hum Mutat

Publication Year: 2022

DOI:
10.1002/humu.24382

PMCID:
PMC9541159

PMID:
35395114

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Journal Information

Full Title: Hum Mutat

Abbreviation: Hum Mutat

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics, Medical

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

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Transparency Score
4/6
66.7% Transparent
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Core Indicators
Evidence found in paper:

"the true positive biological whole genome samples are available from the sequence read archive under the accession number srp148723 (individual samples accessions are from srx4114164 to srx4114173). all other code and data used in this study is available on zenodo ( https://10 5281/zenodo 5745740 )."

Code Sharing
Evidence found in paper:

"CONFLICTS OF INTEREST Egor Dolzhenko is an employee of Illumina, Inc., a public company that develops and markets systems for genetic analysis."

Evidence found in paper:

"National Health and Medical Research Council 10.13039/501100000925"

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Open Access
Paper is freely available to read
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Last Updated: Aug 05, 2025