Benchmarking splice variant prediction algorithms using massively parallel splicing assays.

Authors:
Smith C; Kitzman JO.

Journal:
Genome Biol

Publication Year: 2023

DOI:
10.1186/s13059-023-03144-z

PMCID:
PMC10734170

PMID:
38129864

Journal Information

Full Title: Genome Biol

Abbreviation: Genome Biol

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

Transparency Score
5/6
83.3% Transparent
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Evidence found in paper:

"availability of data and materials datasets scored by all the algorithms are available as supplementary tables and the jupyter notebooks and source data needed to reproduce the scoring and plots are posted at github [ 116 ] and archived at zenodo [ 117 ]. availability of data and materials datasets scored by all the algorithms are available as supplementary tables and the jupyter notebooks and source data needed to reproduce the scoring and plots are posted at github [ 116 ] and archived at zenodo [ 117 ]. we tested for significance as described by braun et al (heading "significant mutation effects and synergistic interactions") using per-replicate variant scores from supplementary data 3 (sheets "hek293t rep1" "hek293t rep2" "hek293t rep3")."

Evidence found in paper:

"availability of data and materials datasets scored by all the algorithms are available as supplementary tables and the jupyter notebooks and source data needed to reproduce the scoring and plots are posted at github [ 116 ] and archived at zenodo [ 117 ]. availability of data and materials datasets scored by all the algorithms are available as supplementary tables and the jupyter notebooks and source data needed to reproduce the scoring and plots are posted at github [ 116 ] and archived at zenodo [ 117 ]."

Evidence found in paper:

"Declarations Ethics approval and consent to participateNot applicable. Consent for publicationNot applicable. Competing interestsJ.O.K. serves as a scientific advisor to MyOme, Inc. The authors declare that there are no further competing interests. Competing interests J.O.K. serves as a scientific advisor to MyOme, Inc. The authors declare that there are no further competing interests."

Evidence found in paper:

"Funding This work was supported by the National Institute of General Medical Sciences (R01GM129123 to J.O.K.)."

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