Results 61 to 70 of about 122,799 (164)
Pooling analysis regarding the impact of human vitamin D receptor variants on the odds of psoriasis [PDF]
BMC Medical Genetics, 2019 Abstract Background The study aims at scientifically investigating the genetic effect of four polymorphisms (rs7975232, rs1544410, rs2228570, and rs731236) within the human Vitamin D Receptor (VDR) gene on the odds of psoriasis through an updated meta-analysis.
Juan Li, Li Sun, Jinghui Sun, Min Yan
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Evaluation of human gene variant detection in amplicon pools by the GS-FLX parallel Pyrosequencer [PDF]
BMC Genomics, 2008 Abstract Background A new priority in genome research is large-scale resequencing of genes to understand the molecular basis of hereditary disease and cancer. We assessed the ability of massively parallel pyrosequencing to identify sequence variants in pools.
Roberta Bordoni +13 more
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Magic Pools: Parallel Assessment of Transposon Delivery Vectors in Bacteria
mSystems, 2018 Transposon mutagenesis coupled to next-generation sequencing (TnSeq) is a powerful approach for discovering the functions of bacterial genes. However, the development of a suitable TnSeq strategy for a given bacterium can be costly and time-consuming. To
Hualan Liu +8 more
doaj +3 more sources
COVID-19 waves: variant dynamics and control
Scientific Reports, 2022 The waves of COVID-19 infections driven by its variants continue to nullify the success we achieved through efficacious vaccines, social restrictions, testing and quarantine policies.
Abhishek Dutta
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Biotechnology & Biotechnological Equipment, 2019 Coronary heart disease (CHD) is a major cause of mortality and morbidity in Europe. CHD is usually caused by atherosclerosis. Despite extensive studies that have identified a large number of genetic variants, strong evidence of association with CHD are ...
Mihail Ganev +13 more
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High-throughput screening of human genetic variants by pooled prime editing
Cell GenomicsABSTRACTUnderstanding the effects of rare genetic variants remains challenging, both in coding and non-coding regions. While multiplexed assays of variant effect (MAVEs) have enabled scalable functional assessment of variants, established MAVEs are limited by either exogenous expression of variants or constraints of genome editing. Here, we introduce a
Michael Herger +5 more
openaire +2 more sources
Beyond sequencing: re-visiting annotations for PJL as a test case
BMC Research Notes, 2019 Objectives Current developments in sequencing techniques have enabled rapid and high-throughput generation of sequence data. However, there is a growing gap between the generation of raw sequencing data and the extraction of meaningful biological ...
Waqasuddin Khan +3 more
doaj +1 more source
Genome Biology, 2021 Background Oncopanel genomic testing, which identifies important somatic variants, is increasingly common in medical practice and especially in clinical trials.
Wendell Jones +73 more
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Frontiers in Dental Medicine, 2021 Objective: To identify which genes are associated with the clinical phenotype of amelogenesis Imperfecta (AI) and to elucidate which of these genes participate in the determination of isolated and syndromic forms.Methods: In this review, all data on ...
Blanca Urzúa +6 more
doaj +1 more source
Clinical and Experimental Obstetrics & Gynecology, 2020 Introduction: Premature ovarian insufficiency (POI) is characterized by an unusually early depletion of the ovarian follicular pool in women. Genetic progress in recent years has allowed the identification of different genes that can predispose to the ...
R. Robeva +7 more
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