Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants

Kohei Hamanaka; Noriko Miyake; Takeshi Mizuguchi; Satoko Miyatake; Yuri Uchiyama; Naomi Tsuchida; Futoshi Sekiguchi; Satomi Mitsuhashi; Yoshinori Tsurusaki; Mitsuko Nakashima; Hirotomo Saitsu; Kohei Yamada; Masamune Sakamoto; Hiromi Fukuda; Sachiko Ohori; Ken Saida; Toshiyuki Itai; Yoshiteru Azuma; Eriko Koshimizu; Atsushi Fujita; Biray Ertürk; Yoko Hiraki; Gaik-Siew Ch’ng; Mitsuhiro Kato; Nobuhiko Okamoto; Atsushi Takata; Naomichi Matsumoto

doi:10.1186/s13073-022-01042-w

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Abstract

We identified dozens of new candidates for NDD genes. Both the methods and the resources developed here will contribute to the further identification of novel NDD-associated genes.

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Hamanaka et al. (2022) studied this question.

synapsesocial.com/papers/69df1436d9e0feb21c591734 https://doi.org/10.1186/s13073-022-01042-w

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Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants

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Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants

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