Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals

Sexual development disorders: Variant prevalence in the Japanese population Researchers in Japan have reported the frequency of mutations related to atypical sexual development in the Japanese population. A team led by Junichi Sugawara of Tohoku University, Sendai, analyzed whole-genome data collect...
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Autor*in:	Naomi Shiga [verfasserIn] Yumi Yamaguchi-Kabata [verfasserIn] Saori Igeta [verfasserIn] Jun Yasuda [verfasserIn] Shu Tadaka [verfasserIn] Takamichi Minato [verfasserIn] Zen Watanabe [verfasserIn] Junko Kanno [verfasserIn] Gen Tamiya [verfasserIn] Nobuo Fuse [verfasserIn] Kengo Kinoshita [verfasserIn] Shigeo Kure [verfasserIn] Akiko Kondo [verfasserIn] Masahito Tachibana [verfasserIn] Masayuki Yamamoto [verfasserIn] Nobuo Yaegashi [verfasserIn] Junichi Sugawara [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2022

Übergeordnetes Werk:	In: Human Genome Variation - Nature Publishing Group, 2015, 9(2022), 1, Seite 9
Übergeordnetes Werk:	volume:9 ; year:2022 ; number:1 ; pages:9

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.1038/s41439-022-00213-w

Katalog-ID:	DOAJ084571489

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language	English
source	In Human Genome Variation 9(2022), 1, Seite 9 volume:9 year:2022 number:1 pages:9
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authorswithroles_txt_mv	Naomi Shiga @@aut@@ Yumi Yamaguchi-Kabata @@aut@@ Saori Igeta @@aut@@ Jun Yasuda @@aut@@ Shu Tadaka @@aut@@ Takamichi Minato @@aut@@ Zen Watanabe @@aut@@ Junko Kanno @@aut@@ Gen Tamiya @@aut@@ Nobuo Fuse @@aut@@ Kengo Kinoshita @@aut@@ Shigeo Kure @@aut@@ Akiko Kondo @@aut@@ Masahito Tachibana @@aut@@ Masayuki Yamamoto @@aut@@ Nobuo Yaegashi @@aut@@ Junichi Sugawara @@aut@@
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author	Naomi Shiga
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topic_title	QH426-470 QH501-531 Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals
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title	Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals
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title_full	Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals
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author_browse	Naomi Shiga Yumi Yamaguchi-Kabata Saori Igeta Jun Yasuda Shu Tadaka Takamichi Minato Zen Watanabe Junko Kanno Gen Tamiya Nobuo Fuse Kengo Kinoshita Shigeo Kure Akiko Kondo Masahito Tachibana Masayuki Yamamoto Nobuo Yaegashi Junichi Sugawara
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title_sort	pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 japanese individuals
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title_auth	Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals
abstract	Sexual development disorders: Variant prevalence in the Japanese population Researchers in Japan have reported the frequency of mutations related to atypical sexual development in the Japanese population. A team led by Junichi Sugawara of Tohoku University, Sendai, analyzed whole-genome data collected by the Tohoku Medical Megabank Organization from 8380 healthy Japanese people. They screened the genomes for variations in 32 genes linked with central hypogonadism (CHG) and disorders of sex development (DSD), and used bioinformatics to predict the effect of the variants. This revealed 91 potentially pathogenic variants in 25 of the genes, including 28 new variants. The team also estimated the frequency of unaffected carriers of these variants. The analysis provides an overview of the prevalence of these variants in the general Japanese population and also offers valuable data for genetic diagnosis and counseling related to DSD and CHG.
abstractGer	Sexual development disorders: Variant prevalence in the Japanese population Researchers in Japan have reported the frequency of mutations related to atypical sexual development in the Japanese population. A team led by Junichi Sugawara of Tohoku University, Sendai, analyzed whole-genome data collected by the Tohoku Medical Megabank Organization from 8380 healthy Japanese people. They screened the genomes for variations in 32 genes linked with central hypogonadism (CHG) and disorders of sex development (DSD), and used bioinformatics to predict the effect of the variants. This revealed 91 potentially pathogenic variants in 25 of the genes, including 28 new variants. The team also estimated the frequency of unaffected carriers of these variants. The analysis provides an overview of the prevalence of these variants in the general Japanese population and also offers valuable data for genetic diagnosis and counseling related to DSD and CHG.
abstract_unstemmed	Sexual development disorders: Variant prevalence in the Japanese population Researchers in Japan have reported the frequency of mutations related to atypical sexual development in the Japanese population. A team led by Junichi Sugawara of Tohoku University, Sendai, analyzed whole-genome data collected by the Tohoku Medical Megabank Organization from 8380 healthy Japanese people. They screened the genomes for variations in 32 genes linked with central hypogonadism (CHG) and disorders of sex development (DSD), and used bioinformatics to predict the effect of the variants. This revealed 91 potentially pathogenic variants in 25 of the genes, including 28 new variants. The team also estimated the frequency of unaffected carriers of these variants. The analysis provides an overview of the prevalence of these variants in the general Japanese population and also offers valuable data for genetic diagnosis and counseling related to DSD and CHG.
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title_short	Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals
url	https://doi.org/10.1038/s41439-022-00213-w https://doaj.org/article/a4cbc377ddd4480ab3dea288be8a8295 https://doaj.org/toc/2054-345X
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author2	Yumi Yamaguchi-Kabata Saori Igeta Jun Yasuda Shu Tadaka Takamichi Minato Zen Watanabe Junko Kanno Gen Tamiya Nobuo Fuse Kengo Kinoshita Shigeo Kure Akiko Kondo Masahito Tachibana Masayuki Yamamoto Nobuo Yaegashi Junichi Sugawara
author2Str	Yumi Yamaguchi-Kabata Saori Igeta Jun Yasuda Shu Tadaka Takamichi Minato Zen Watanabe Junko Kanno Gen Tamiya Nobuo Fuse Kengo Kinoshita Shigeo Kure Akiko Kondo Masahito Tachibana Masayuki Yamamoto Nobuo Yaegashi Junichi Sugawara
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up_date	2024-07-03T23:39:06.292Z
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Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals

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