Distinct sequence features underlie microdeletions and gross deletions in the human genome.

Authors:
Qi M; Stenson PD; Ball EV; Tainer JA; Bacolla A and 3 more

Journal:
Hum Mutat

Publication Year: 2022

DOI:
10.1002/humu.24314

PMCID:
PMC9069542

PMID:
34918412

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

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

"data availability statement a pipeline is available at https://github com/qimengling/deletion_score_pipe for anyone with novel deletions."

Evidence found in paper:

"data availability statement a pipeline is available at https://github com/qimengling/deletion_score_pipe for anyone with novel deletions."

Evidence found in paper:

"CONFLICT OF INTERESTS The authors declare that there are no conflict of interests."

Evidence found in paper:

"This study was supported in part through computational resources provided by Bioinformatics and Omics Center, Sun Yat‐Sen Memorial Hospital, Sun Yat‐Sen University, and through HPC resources from the Texas Advanced Computing Center (TACC) at The University of Texas at Austin (URL: http://www.tacc.utexas.edu). This study was funded by grants from the National Key R&D Program of China (2020YFB0204803), the Natural Science Foundation of China (81801132, 81971190, 61772566), Guangdong Key Field R&D Plan (2019B020228001 and 2018B010109006), Introducing Innovative and Entrepreneurial Teams (2016ZT06D211), Guangzhou S&T Research Plan (202007030010) to H.Z. and by National Institutes of Health (NIH) grants (P01 CA092584 and R35 CA220430) to J.A.T. P.D.S., E.V.B and D.N.C. acknowledge the financial support of Qiagen Inc through a License Agreement with Cardiff University."

Protocol Registration
Open Access
Paper is freely available to read
Additional Indicators
Replication
Novelty Statement
Assessment Info

Tool: rtransparent

OST Version: N/A

Last Updated: Aug 05, 2025