Crossmark

Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits

Crossref DOI link: https://doi.org/10.1186/s13073-022-01113-y

Published Online: 2022-09-30

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Yuan, Bo

Schulze, Katharina V.

Assia Batzir, Nurit

Sinson, Jefferson

Dai, Hongzheng

Zhu, Wenmiao

Bocanegra, Francia

Fong, Chin-To

Holder, Jimmy

Nguyen, Joanne

Schaaf, Christian P.

Yang, Yaping

Bi, Weimin

Eng, Christine

Shaw, Chad

Lupski, James R.

Liu, Pengfei http://orcid.org/0000-0002-4177-709X
Funding

Funding for this research was provided by:

National Human Genome Research Institute (R35HG011311, UM1HG006542)

National Institute of Neurological Disorders and Stroke (R35NS105078)
License Information

Text and Data Mining valid from 2022-09-30

Version of Record valid from 2022-09-30
More Information

Article History

Received: 2 November 2021

Accepted: 2 September 2022

First Online: 30 September 2022

Declarations

:

: This study has been performed in accordance with the research protocol approved by Institutional Review Boards at Baylor College of Medicine (reference #: H-41191). A waiver of informed consent has been obtained because the analysis and publication of human subject data included in this study have been de-identified and present minimal risks to the study subjects. The research activities in this study conformed to the principles of the Helsinki Declaration.

: Not applicable.

: KS, HD, WZ, WB, CE, and PL are affiliated with Baylor Genetics (BG). Baylor College of Medicine (BCM) and Miraca Holdings Inc. have formed a joint venture with shared ownership and governance of BG, which performs clinical exome sequencing (cES) and chromosomal microarray (CMA) genomics assay services. The authors who are affiliated with BG are employees of BCM and derive support through a professional services agreement with the BG. JRL has stock ownership in 23andMe, is a paid consultant for Regeneron Pharmaceuticals and Novartis, and is a co-inventor on multiple United States and European patents related to molecular diagnostics for inherited neuropathies, eye diseases, genomic disorders, and bacterial genomic fingerprinting. JRL is a member of the BG Scientific Advisory Board. The remaining authors declare that they have no competing interests.

Document is current

Any future updates will be listed below