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Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals

Crossref DOI link: https://doi.org/10.1038/s41439-020-00133-7

Published Online: 2021-01-15

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

Authors

Nagaoka, Shinichi

Yamaguchi-Kabata, Yumi

Shiga, Naomi

Tachibana, Masahito

Yasuda, Jun

Tadaka, Shu http://orcid.org/0000-0002-8256-0735
Tamiya, Gen

Fuse, Nobuo http://orcid.org/0000-0003-0237-4746
Kinoshita, Kengo http://orcid.org/0000-0003-3453-2171
Kure, Shigeo

Murotsuki, Jun

Yamamoto, Masayuki http://orcid.org/0000-0002-9073-9436
Yaegashi, Nobuo

Sugawara, Junichi http://orcid.org/0000-0001-8026-2550
Funding

Funding for this research was provided by:

Japan Agency for Medical Research and Development (JP19km0105001, P19km0105002)
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Text and Data Mining valid from 2021-01-15

Version of Record valid from 2021-01-15
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Article History

Received: 22 July 2020

Revised: 7 December 2020

Accepted: 8 December 2020

First Online: 15 January 2021

Conflict of interest

: The authors declare that they have no conflict of interest.

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