Human Genome Variation最新文献_第8页

Genetic Creutzfeldt‒Jakob disease with 5-octapeptide repeats presented as frontotemporal dementia. 带有5-八肽重复序列的遗传性克雅氏病表现为额颞叶痴呆症。

IF 1.5

Human Genome Variation Pub Date : 2023-03-29 DOI: 10.1038/s41439-023-00237-w

Shinsuke Hamada, Ikuko Takahashi-Iwata, Katsuya Satoh, Tetsuyuki Kitamoto, Hidehiro Mizusawa, Fumio Moriwaka, Ichiro Yabe

引用次数: 1

A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene. 一例由 DCN 基因新型变异体 c.953del 引起的小儿先天性角膜基质营养不良症。

IF 1.5

Human Genome Variation Pub Date : 2023-03-24 DOI: 10.1038/s41439-023-00239-8

Hazuki Morikawa, Sachiko Nishina, Kaoruko Torii, Katsuhiro Hosono, Tadashi Yokoi, Chika Shigeyasu, Masakazu Yamada, Motomichi Kosuga, Maki Fukami, Hirotomo Saitsu, Noriyuki Azuma, Yuichi Hori, Yoshihiro Hotta

引用次数: 0

Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis. 日本脱水型遗传性口腔细胞增多症患者 PIEZO1 和 KCNN4 的变异谱。

IF 1.5

Human Genome Variation Pub Date : 2023-03-02 DOI: 10.1038/s41439-023-00235-y

Erina Nakahara, Keiko Shimojima Yamamoto, Hiromi Ogura, Takako Aoki, Taiju Utsugisawa, Kenko Azuma, Hiroyuki Akagawa, Kenichiro Watanabe, Michiko Muraoka, Fumihiko Nakamura, Michi Kamei, Koji Tatebayashi, Jun Shinozuka, Takahisa Yamane, Makoto Hibino, Yoshiya Katsura, Sonoko Nakano-Akamatsu, Norimitsu Kadowaki, Yoshiro Maru, Etsuro Ito, Shouichi Ohga, Hiroshi Yagasaki, Ichiro Morioka, Toshiyuki Yamamoto, Hitoshi Kanno

引用次数: 0

SHQ1-associated neurodevelopmental disorder: Report of the first homozygous variant in unrelated patients and review of the literature. SHQ1相关神经发育障碍：报告首例非亲属关系患者的同基因变异并回顾文献。

IF 1.5

Human Genome Variation Pub Date : 2023-02-22 DOI: 10.1038/s41439-023-00234-z

Aljouhra AlHargan, Mohammed A AlMuhaizea, Rawan Almass, Ali H Alwadei, Maha Daghestani, Stefan T Arold, Namik Kaya

{"title":"SHQ1-associated neurodevelopmental disorder: Report of the first homozygous variant in unrelated patients and review of the literature.","authors":"Aljouhra AlHargan, Mohammed A AlMuhaizea, Rawan Almass, Ali H Alwadei, Maha Daghestani, Stefan T Arold, Namik Kaya","doi":"10.1038/s41439-023-00234-z","DOIUrl":"10.1038/s41439-023-00234-z","url":null,"abstract":"Compound heterozygous mutations in SHQ1 have been associated with a rare and severe neurological disorder characterized by global developmental delay (GDD), cerebellar degeneration coupled with seizures, and early-onset dystonia. Currently, only five affected individuals have been documented in the literature. Here, we report three children from two unrelated families harboring a homozygous variant in the gene but with a milder phenotype than previously described. The patients had GDD and seizures. Magnetic resonance imaging analyses revealed diffuse white matter hypomyelination. Sanger sequencing confirmed the whole-exome sequencing results and revealed full segregation of the missense variant (SHQ1:c.833 T > C; p.I278T) in both families. We performed a comprehensive in silico analysis using different prediction classifiers and structural modeling of the variant. Our findings demonstrate that this novel homozygous variant in SHQ1 is likely to be pathogenic and leads to the clinical features observed in our patients.","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":"10 1","pages":"7"},"PeriodicalIF":1.5,"publicationDate":"2023-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9944922/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10823014","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

Design and implementation of a hybrid cloud system for large-scale human genomic research. 为大规模人类基因组研究设计和实施混合云系统。

IF 1.5

Human Genome Variation Pub Date : 2023-02-08 DOI: 10.1038/s41439-023-00231-2

Masao Nagasaki, Yayoi Sekiya, Akihiro Asakura, Ryo Teraoka, Ryoko Otokozawa, Hiroki Hashimoto, Takahisa Kawaguchi, Keiichiro Fukazawa, Yuichi Inadomi, Ken T Murata, Yasuyuki Ohkawa, Izumi Yamaguchi, Takamichi Mizuhara, Katsushi Tokunaga, Yuji Sekiya, Toshihiro Hanawa, Ryo Yamada, Fumihiko Matsuda

{"title":"Design and implementation of a hybrid cloud system for large-scale human genomic research.","authors":"Masao Nagasaki, Yayoi Sekiya, Akihiro Asakura, Ryo Teraoka, Ryoko Otokozawa, Hiroki Hashimoto, Takahisa Kawaguchi, Keiichiro Fukazawa, Yuichi Inadomi, Ken T Murata, Yasuyuki Ohkawa, Izumi Yamaguchi, Takamichi Mizuhara, Katsushi Tokunaga, Yuji Sekiya, Toshihiro Hanawa, Ryo Yamada, Fumihiko Matsuda","doi":"10.1038/s41439-023-00231-2","DOIUrl":"10.1038/s41439-023-00231-2","url":null,"abstract":"In the field of genomic medical research, the amount of large-scale information continues to increase due to advances in measurement technologies, such as high-performance sequencing and spatial omics, as well as the progress made in genomic cohort studies involving more than one million individuals. Therefore, researchers require more computational resources to analyze this information. Here, we introduce a hybrid cloud system consisting of an on-premise supercomputer, science cloud, and public cloud at the Kyoto University Center for Genomic Medicine in Japan as a solution. This system can flexibly handle various heterogeneous computational resource-demanding bioinformatics tools while scaling the computational capacity. In the hybrid cloud system, we demonstrate the way to properly perform joint genotyping of whole-genome sequencing data for a large population of 11,238, which can be a bottleneck in sequencing data analysis. This system can be one of the reference implementations when dealing with large amounts of genomic medical data in research centers and organizations.","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":"10 1","pages":"6"},"PeriodicalIF":1.5,"publicationDate":"2023-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9908893/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10687882","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: 2

GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy. 一名女性发育性癫痫脑病患者的 GRIA3 p.Met661Thr 变异。

IF 1.5

Human Genome Variation Pub Date : 2023-02-02 DOI: 10.1038/s41439-023-00232-1

Satomi Okano, Yoshio Makita, Akie Miyamoto, Genya Taketazu, Kayano Kimura, Ikue Fukuda, Hajime Tanaka, Kumiko Yanagi, Tadashi Kaname

引用次数: 0

Pathogenic variants of Alport syndrome and monogenic diabetes identified by exome sequencing in a family. 通过外显子测序在一个家族中发现阿尔波特综合征和单基因糖尿病的致病变异。

IF 1.5

Human Genome Variation Pub Date : 2023-02-02 DOI: 10.1038/s41439-023-00233-0

Hirofumi Watanabe, Shin Goto, Michihiro Hosojima, Hideyuki Kabasawa, Naofumi Imai, Yumi Ito, Ichiei Narita

引用次数: 0

Novel WNT10A variant in a Japanese case of nonsyndromic oligodontia. 日本一例非综合征性少齿畸形患者的新型 WNT10A 变异。

IF 1.5

Human Genome Variation Pub Date : 2023-01-26 DOI: 10.1038/s41439-023-00230-3

Junya Adachi, Yoshihiko Aoki, Hiroto Izumi, Takeshi Nishiyama, Atsuo Nakayama, Masatoshi Sana, Kyoko Morimoto, Atsuo Kaetsu, Takamasa Shirozu, Eriko Osumi, Michiko Matsuoka, Eri Hayakawa, Nasel Maeda, Junichiro Machida, Toru Nagao, Yoshihito Tokita

引用次数: 0

Diversity and distribution of mitochondrial DNA in non-Austronesian-speaking Taiwanese individuals. 非讲澳语的台湾人线粒体 DNA 的多样性和分布。

IF 1.5

Human Genome Variation Pub Date : 2023-01-18 DOI: 10.1038/s41439-022-00228-3

Marie Lin, Jean A Trejaut

{"title":"Diversity and distribution of mitochondrial DNA in non-Austronesian-speaking Taiwanese individuals.","authors":"Marie Lin, Jean A Trejaut","doi":"10.1038/s41439-022-00228-3","DOIUrl":"10.1038/s41439-022-00228-3","url":null,"abstract":"Many studies have described the diversity of Austronesian-speaking Taiwanese people to shed more light on their origin and their connection with the \"Out of Taiwan\" migrations. However, the genetic relationship between the non-Austronesian-speaking groups of Taiwan and the populations of continental Asia is still unclear. Here, we studied the diversity of mtDNA in 767 non-Austronesian speakers from 16 locations in Taiwan using partial sequencing obtained from the hypervariable segment I (HVS-I) and coding regions 8,001-9,000 and 9.801-10,900 and 85 complete mtDNA genome sequences. Bayesian analysis of population structure was used to examine their relationship with over 3662 individuals representing indigenous groups of Taiwan, continental East Asia, Japan, and Island Southeast Asia. The whole analysis identified 278 haplotypes. Complete genomes revealed 62 novel subhaplogroups, of which 31 were exclusive to Taiwan. Estimates of coalescence times of all subhaplogroups showed peaks of diversification greater than 5.0 kya, likely characterizing gene flow from continental East Asian groups but not excluding in situ Taiwanese ancestry. Furthermore, a significant number of clades exclusive to non-Austronesian speakers of Taiwan (NAN_Tw) showed coalescence peaks between 1.0 and 2.6 kya, suggesting possible late Neolithic to early metal age settlements of NAN_Tw and local expansion in Taiwan.","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":"10 1","pages":"2"},"PeriodicalIF":1.5,"publicationDate":"2023-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9849472/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10553026","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

EPS8 variant causes deafness, autosomal recessive 102 (DFNB102) and literature review. EPS8变体致聋，常染色体隐性102（DFNB102）及文献综述。

IF 1.5

Human Genome Variation Pub Date : 2023-01-13 DOI: 10.1038/s41439-023-00229-w

Zahra Abbasi, Hossein Jafari Khamirani, Seyed Mohammad Bagher Tabei, Jamal Manoochehri, Mehdi Dianatpour, Seyed Alireza Dastgheib

引用次数: 0