Human Genome Variation最新文献_第9页

Atypical Sotos syndrome caused by a novel splice site variant. 由一种新的剪接位点变异引起的非典型索托斯综合征。

IF 1.5

Human Genome Variation Pub Date : 2022-11-16 DOI: 10.1038/s41439-022-00219-4

Mari Minatogawa, Taichi Tsuji, Mie Inaba, Noriaki Kawakami, Seiji Mizuno, Tomoki Kosho

引用次数: 1

Novel missense COL2A1 variant in a fetus with achondrogenesis type II. II型软骨发育不全胎儿的新型错义COL2A1变异。

IF 1.5

Human Genome Variation Pub Date : 2022-11-15 DOI: 10.1038/s41439-022-00218-5

Yukari Kobayashi, Yuki Ito, Kosuke Taniguchi, Kana Harada, Michihiro Yamamura, Taisuke Sato, Ken Takahashi, Hiroshi Kawame, Kenichiro Hata, Osamu Samura, Aikou Okamoto

引用次数: 0

Distal 2q duplication in a patient with intellectual disability. 智力残疾患者的远端2q重复。

IF 1.5

Human Genome Variation Pub Date : 2022-11-10 DOI: 10.1038/s41439-022-00215-8

Toshifumi Suzuki, Hitoshi Osaka, Noriko Miyake, Atsushi Fujita, Yuri Uchiyama, Rie Seyama, Eriko Koshimizu, Satoko Miyatake, Takeshi Mizuguchi, Satoru Takeda, Naomichi Matsumoto

引用次数: 1

National Center Biobank Network. 国家中心生物银行网络。

IF 1.5

Human Genome Variation Pub Date : 2022-11-04 DOI: 10.1038/s41439-022-00217-6

Yosuke Omae, Yu-Ichi Goto, Katsushi Tokunaga

引用次数: 2

An MSH6 germline pathogenic variant p.Gly162Ter associated with Lynch syndrome. 与Lynch综合征相关的MSH6种系致病变异p.Gly162Ter。

IF 1.5

Human Genome Variation Pub Date : 2022-10-26 DOI: 10.1038/s41439-022-00216-7

Olga A Vostrukhina, Elena D Mirlina, Darya N Khmelkova, Galina M Butrovich, Alexandra D Shakhmatova, Yury V Kil, Yliya L Polyatskin, Anna S Artemyeva, Alexey V Gulyaev, Valery N Verbenko

引用次数: 1

Cloud service checklist for academic communities and customization for genome medical research. 学术界的云服务清单和基因组医学研究的定制。

IF 1.5

Human Genome Variation Pub Date : 2022-10-17 DOI: 10.1038/s41439-022-00214-9

Kumiko Kobayashi, Hiroshi Yoshida, Tomoya Tanjo, Kento Aida

{"title":"Cloud service checklist for academic communities and customization for genome medical research.","authors":"Kumiko Kobayashi, Hiroshi Yoshida, Tomoya Tanjo, Kento Aida","doi":"10.1038/s41439-022-00214-9","DOIUrl":"https://doi.org/10.1038/s41439-022-00214-9","url":null,"abstract":"In this paper, we present a cloud service checklist designed to help IT administrators or researchers in academic organizations select the most suitable cloud services. This checklist, which comprises items that we believe IT administrators or researchers in academic organizations should consider when they adopt cloud services, comprehensively covers the issues related to a variety of cloud services, including security, functionality, performance, and law. In response to the increasing demands for storage and computing resources in genome medical science communities, various guidelines for using resources operated by external organizations, such as cloud services, have been published by different academic funding agencies and the Japanese government. However, it is sometimes difficult to identify the checklist items that satisfy the genome medical science community's guidelines, and some of these requirements are not included in the existing checklists. This issue provided our motivation for creating a cloud service checklist customized for genome medical research communities. The resulting customized checklist is designed to help researchers easily find information about the cloud services that satisfy the guidelines in genome medical science communities. Additionally, we explore whether many cloud service providers satisfy the requirements or checklist items in the cloud service checklist for genome medical research by evaluating their survey responses.","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2022-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9574824/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10556442","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A Japanese patient with neonatal biotin-responsive basal ganglia disease. 日本新生儿生物素反应性基底神经节病1例。

IF 1.5

Human Genome Variation Pub Date : 2022-09-29 DOI: 10.1038/s41439-022-00210-z

Mizuki Kobayashi, Yuichi Suzuki, Maki Nodera, Ayako Matsunaga, Masakazu Kohda, Yasushi Okazaki, Kei Murayama, Takanori Yamagata, Hitoshi Osaka

引用次数: 1

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. 在8380名日本人的全基因组参考小组中，与性发育障碍和性腺功能减退的主要原因相关的基因病理变异。

IF 1.5

Human Genome Variation Pub Date : 2022-09-28 DOI: 10.1038/s41439-022-00213-w

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

{"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.","authors":"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","doi":"10.1038/s41439-022-00213-w","DOIUrl":"https://doi.org/10.1038/s41439-022-00213-w","url":null,"abstract":"Disorders of sex development (DSD) comprises a congenital condition in which chromosomal, gonadal, or anatomical sex development is atypical. In this study, we screened for pathogenic variants in 32 genes associated with DSDs and central causes of hypogonadism (CHG) in a whole-genome reference panel including 8380 Japanese individuals constructed by Tohoku Medical Megabank Organization. Candidate pathogenic (P) or likely pathogenic (LP) variants were extracted from the ClinVar, InterVar, and Human Gene Mutation databases. Ninety-one candidate pathological variants were found in 25 genes; 28 novel candidate variants were identified. Nearly 1 in 40 (either ClinVar or InterVar P or LP) to 157 (both ClinVar and InterVar P or LP) individuals were found to be carriers of recessive DSD and CHG alleles. In these data, genes implicated in gonadal dysfunction did not show loss-of-function variants, with a relatively high tendency of intolerance for haploinsufficiency based on pLI and Episcore, both of which can be used for estimating haploinsufficiency. We report the types and frequencies of causative variants for DSD and CHG in the general Japanese population. This study furthers our understanding of the genetic causes and helps to refine genetic counseling of DSD and CHG.","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2022-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9519586/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10516916","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The ATRX splicing variant c.21-1G>A is asymptomatic. ATRX剪接变异体c.21-1G>A无症状。

IF 1.5

Human Genome Variation Pub Date : 2022-09-14 DOI: 10.1038/s41439-022-00212-x

Karin Kojima, Takahito Wada, Hiroko Shimbo, Takahiro Ikeda, Eriko F Jimbo, Hirotomo Saitsu, Naomichi Matsumoto, Takanori Yamagata

引用次数: 0

Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome. 精氨酸琥珀酸尿和银罗素综合征的7号染色体单亲二体。

IF 1.5

Human Genome Variation Pub Date : 2022-09-12 DOI: 10.1038/s41439-022-00211-y

Atsushi Hattori, Torayuki Okuyama, Tetsumin So, Motomichi Kosuga, Keiko Ichimoto, Kei Murayama, Masayo Kagami, Maki Fukami, Yasuyuki Fukuhara

引用次数: 1