Results 31 to 40 of about 552,282 (159)
, 2023 Virilizer (Vir), first isolated from Drosophila melanogaster, plays a role in sex determination. In humans, its homologue and METTL3 are involved in N6-adenosine methylation (m6A) writing. As m6A of mRNA is an important process in most eukaryotes, it is very important to understand its role and the status of factors accompanying this modification ...
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Whole genome sequencing in families with oligodontia
Oral Diseases, 2023 Abstract Background/Objectives Tooth agenesis (TA) is among the most common malformations in humans. Although several causative mutations have been described, the genetic cause often remains elusive. Here, we test whether whole genome sequencing (WGS) could bridge this diagnostic gap.
Janna Mitscherling +6 more
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Human Whole-Genome Shotgun Sequencing [PDF]
Genome Research, 1997 Large-scale sequencing of the human genome is now under way (Boguski et al. 1996; Marshall and Pennisi 1996). Although at the beginning of the Genome Project, many doubted the scientific value of sequencing the entire human genome, these doubts have evaporated almost entirely (Gibbs 1995; Olson 1995).
J L, Weber, E W, Myers
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Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples
Nature Communications, 2020 With the generation of large pan-cancer whole-exome and whole-genome sequencing projects, a question remains about how comparable these datasets are. Here, using The Cancer Genome Atlas samples analysed as part of the Pan-Cancer Analysis of Whole Genomes
Matthew H. Bailey +20 more
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Whole-genome sequencing analysis of semi-supercentenarians
eLife, 2021 Extreme longevity is the paradigm of healthy aging as individuals who reached the extreme decades of human life avoided or largely postponed all major age-related diseases.
Paolo Garagnani +34 more
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Whole-Genome Sequencing Redefines Shewanella Taxonomy
Frontiers in Microbiology, 2019 The genus Shewanella encompasses a diverse group of Gram negative, primarily aquatic bacteria with a remarkable ecological relevance, an outstanding set of metabolic features and an emergent clinical importance.
Kaisa Thorell +3 more
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IDCases, 2021 We describe the case of a 33-year-old woman with recurrent granulomatous mastitis associated with Corynebacterium kroppenstedtii. This organism has been increasingly associated with granulomatous mastitis, specifically the cystic neutrophilic ...
Charlie Tan +6 more
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Whole Genome Sequencing and Newborn Screening [PDF]
Current Genetic Medicine Reports, 2016 Clinical applications of next generation sequencing are growing at a tremendous pace. Currently the largest application of genetic testing in medicine occurs with newborn screening through state-mandated public health programs, and there are suggestions that sequencing could become a standard component of newborn care within the next decade.
Jeffrey R, Botkin, Erin, Rothwell
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VirusesCoronavirus disease 2019 (COVID-19) has been associated with a significant fatality rate and persistent evolution in immunocompromised patients. In this prospective study, we aimed to determine the duration of excretion of severe acute respiratory ...
Asma Themlaoui +10 more
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Whole-genome sequencing data of Kazakh individuals
BMC Research Notes, 2021 Objectives Kazakhstan is a Central Asian crossroad of European and Asian populations situated along the way of the Great Silk Way. The territory of Kazakhstan has historically been inhabited by nomadic tribes and today is the multi-ethnic country with ...
Ulykbek Kairov +10 more
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