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

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

Bone dysplasia: Estimating carrier frequency with bioinformatics A bioinformatics approach helps estimate carrier frequency of a rare inherited bone disease which causes abnormalities in skeletal shape and structure. Autosomal recessive bone dysplasias affect bone and cartilage development and resul...

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Bibliographic Details
Main Authors: Shinichi Nagaoka, Yumi Yamaguchi-Kabata, Naomi Shiga, Masahito Tachibana, Jun Yasuda, Shu Tadaka, Gen Tamiya, Nobuo Fuse, Kengo Kinoshita, Shigeo Kure, Jun Murotsuki, Masayuki Yamamoto, Nobuo Yaegashi, Junichi Sugawara
Format: Article
Language:English
Published: Nature Publishing Group 2021-01-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-020-00133-7

Internet

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

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