Accuracy and depth evaluation of clinical low pass genome sequencing in the detection of mosaic aneuploidies and CNVs.

Authors:
Liu Y; Hao S; Guo X; Fan L; Qiao Z and 9 more

Journal:
BMC Med Genomics

Publication Year: 2023

DOI:
10.1186/s12920-023-01703-8

PMCID:
PMC10656965

PMID:
37978521

Journal Information

Full Title: BMC Med Genomics

Abbreviation: BMC Med Genomics

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
3/6
50.0% Transparent
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Evidence found in paper:

"Declarations Ethics approval and consent to participateWritten informed consents were obtained from all the participants and their legal guardians. This study was approved by THE INSTITUTIONAL REVIEW BOARD OF BGI (NO. BGI-IRB 22062), and was performed in accordance with the Declaration of Helsinki. Consent for publicationNot applicable. Competing interestsThe authors declare no competing interests. Competing interests The authors declare no competing interests."

Evidence found in paper:

"Funding This research received no external funding."

Protocol Registration
Open Access
Paper is freely available to read
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Assessment Info

Tool: rtransparent

OST Version: N/A

Last Updated: Aug 05, 2025