Zobrazeno 1 - 10
of 4 300
pro vyhledávání: '"DE-NOVO MUTATIONS"'
Autor:
Jonatan Axelsson, Danielle LeBlanc, Habiballah Shojaeisaadi, Matthew J Meier, Devon M. Fitzgerald, Daniela Nachmanson, Jedidiah Carlson, Alexandra Golubeva, Jake Higgins, Thomas Smith, Fang Yin Lo, Richard Pilsner, Andrew Williams, Jesse Salk, Francesco Marchetti, Carole Yauk
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-15 (2024)
Abstract De novo mutations (DNMs) are drivers of genetic disorders. However, the study of DNMs is hampered by technological limitations preventing accurate quantification of ultra-rare mutations. Duplex Sequencing (DS) theoretically has T. Blood MF a
Externí odkaz:
https://doaj.org/article/642eb87b6f244a7fb80c1b98bc0a8549
Autor:
Mónica Lopes-Marques, Matthew Mort, João Carneiro, António Azevedo, Andreia P. Amaro, David N. Cooper, Luísa Azevedo
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-10 (2024)
Abstract Background De novo mutations (DNMs) are variants that occur anew in the offspring of noncarrier parents. They are not inherited from either parent but rather result from endogenous mutational processes involving errors of DNA repair/replicat
Externí odkaz:
https://doaj.org/article/654c1ec191e44022bddddac9d9bfd17f
Publikováno v:
Frontiers in Psychiatry, Vol 15 (2024)
Neurodevelopmental disorders (NDDs) are a class of pathologies arising from perturbations in brain circuit formation and maturation with complex etiological triggers often classified as environmental and genetic. Neuropsychiatric conditions such as a
Externí odkaz:
https://doaj.org/article/800b88d59790449ea95e40d46aa3dc2f
Autor:
Erdi Kucuk, Bart P. G. H. van der Sanden, Luke O’Gorman, Michael Kwint, Ronny Derks, Aaron M. Wenger, Christine Lambert, Shreyasee Chakraborty, Primo Baybayan, William J. Rowell, Han G. Brunner, Lisenka E. L. M. Vissers, Alexander Hoischen, Christian Gilissen
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-15 (2023)
Abstract Background Long-read sequencing (LRS) techniques have been very successful in identifying structural variants (SVs). However, the high error rate of LRS made the detection of small variants (substitutions and short indels
Externí odkaz:
https://doaj.org/article/590b4d540eb5411bb3b8f2bd4ce985c0
Autor:
Qun Li, Lin Zhao, Yang Zeng, Yanping Kuang, Yichun Guan, Biaobang Chen, Shiru Xu, Bin Tang, Ling Wu, Xiaoyan Mao, Xiaoxi Sun, Juanzi Shi, Peng Xu, Feiyang Diao, Songguo Xue, Shihua Bao, Qingxia Meng, Ping Yuan, Wenjun Wang, Ning Ma, Di Song, Bei Xu, Jie Dong, Jian Mu, Zhihua Zhang, Huizhen Fan, Hao Gu, Qiaoli Li, Lin He, Li Jin, Lei Wang, Qing Sang
Publikováno v:
Genome Biology, Vol 24, Iss 1, Pp 1-23 (2023)
Abstract Background Oocyte maturation arrest and early embryonic arrest are important reproductive phenotypes resulting in female infertility and cause the recurrent failure of assisted reproductive technology (ART). However, the genetic etiologies o
Externí odkaz:
https://doaj.org/article/7aeded40b7b348c2bfc1fc31390d87f6
Publikováno v:
Journal of Biosafety and Biosecurity, Vol 4, Iss 2, Pp 114-120 (2022)
Over the past two years, scientists throughout the world have completed more than 6 million SARS-CoV-2 genome sequences. Today, the number of SARS-CoV-2 genomes exceeds the total number of all other viral genomes. These genomes are a record of the ev
Externí odkaz:
https://doaj.org/article/6bdab213a8924e51ae940be9e43a5040
Autor:
Wen-Xiong Chen, Bin Liu, Lijie Zhou, Xiaoli Xiong, Jie Fu, Zhi-Fang Huang, Ting Tan, Mingxi Tang, Jun Wang, Ya-Ping Tang
Publikováno v:
Human Genomics, Vol 16, Iss 1, Pp 1-14 (2022)
Abstract Background Autism spectrum disorder (ASD) is often accompanied by intellectual disability (ID). Despite extensive studies, however, the genetic basis for this comorbidity is still not clear. In this study, we tried to develop an analyzing pi
Externí odkaz:
https://doaj.org/article/17b5df403e584c5e8772470b4d16c11c
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