OGM and WES identifies translocation breakpoints in PKD1 gene in an polycystic kidney patient and healthy baby delivered using PGT.

Authors:
Xu P; Wang L; Li J; Huang S; Gao M and 7 more

Journal:
BMC Med Genomics

Publication Year: 2023

DOI:
10.1186/s12920-023-01725-2

PMCID:
PMC10642002

PMID:
37953234

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
4/6
66.7% Transparent
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Evidence found in paper:

"availability of data and materials the datasets generated and analyzed during the current study are available in the [genbank] repository (genbank ( https://www ncbi nlm nih gov/websub/ ) id: 2266173)."

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Evidence found in paper:

"Declarations Ethics approval and consent to participateThe study was approved by Ethics Committee of Center for Reproductive Medicine, Shandong University. The collection and use of tissues in the subsequent procedures meet the criterion of ethical standards as formulated in the Helsinki Declaration. Written informed consent was obtained from all participants. 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 work was funded from the National Key Research and Development Program of China (2021YFC2700600; 2022YFC2703200; 2021YFC2700500); Medical and Health Development Program of Shandong Province (202201030242; 202201010187)."

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Open Access
Paper is freely available to read
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Tool: rtransparent

OST Version: N/A

Last Updated: Aug 05, 2025