Results 21 to 30 of about 127,668 (260)
Pooled Association Tests for Rare Variants in Exon-Resequencing Studies [PDF]
The American Journal of Human Genetics, 2010 Deep sequencing will soon generate comprehensive sequence information in large disease samples. Although the power to detect association with an individual rare variant is limited, pooling variants by gene or pathway into a composite test provides an alternative strategy for identifying susceptibility genes.
Price, Alkes L. +6 more
openaire +3 more sources
Quantification of rare allelic variants from pooled genomic DNA [PDF]
Nature Methods, 2009 We report a targeted, cost-effective method to quantify rare single-nucleotide polymorphisms from pooled human genomic DNA using second-generation sequencing. We pooled DNA from 1,111 individuals and targeted four genes to identify rare germline variants.
Druley, Todd E +11 more
openaire +2 more sources
Resequencing of pooled DNA for detecting disease associations with rare variants [PDF]
Genetic Epidemiology, 2010 AbstractA combination of common and rare variants is thought to contribute to genetic susceptibility to complex diseases. Recently, next‐generation sequencers have greatly lowered sequencing costs, providing an opportunity to identify rare disease variants in large genetic epidemiology studies.
Tao, Wang +3 more
openaire +2 more sources
Synthesis and biological evaluation of Argemone mexicana-inspired antimicrobials
Beilstein Journal of Organic Chemistry, 2023 Due to the lack of new antimicrobial drug discovery in recent years and an ever-growing prevalence of multidrug-resistant “superbugs”, there is a pressing need to explore alternative ways to combat pathogenic bacterial and fungal infections.
Jessica Villegas +8 more
doaj +1 more source
Detection of SARS-CoV-2 through pool testing for COVID-19: an integrative review
Revista da Sociedade Brasileira de Medicina Tropical, 2021 INTRODUCTION: The pool testing technique optimizes the number of tests performed and reduces the delivery time of results, which is an interesting strategy for the health crisis caused by the COVID-19 pandemic.
Murilo Soares Costa +13 more
doaj +1 more source
Molecular Genetics & Genomic Medicine, 2021 Background Exome sequencing (ES) has become the most powerful and cost‐effective molecular tool for deciphering rare diseases with a diagnostic yield approaching 30%–40% in solo‐ES and 50% in trio‐ES.
Frederic Tran Mau‐Them +19 more
doaj +1 more source
Improved detection of artifactual viral minority variants in high-throughput sequencing data
Frontiers in Microbiology, 2015 High-throughput sequencing (HTS) of viral samples provides important information on the presence of viral minority variants. However, detection and accurate quantification is limited by the capacity to distinguish biological from artificial variation. In
Matthijs Rudolf Albert Welkers +6 more
doaj +1 more source
Molecular genetics of neuropsychiatric illness: some musings
Frontiers in Genetics, 2023 Research into the genetic underpinnings of neuropsychiatric illness has occurred at many levels. As more information accumulates, it appears that many approaches may each offer their unique perspective.
Meghana Janardhanan +3 more
doaj +1 more source
High-throughput, image-based screening of pooled genetic-variant libraries [PDF]
Nature Methods, 2017 We report a high-throughput screening method that allows diverse genotypes and corresponding phenotypes to be imaged in individual cells. We achieve genotyping by introducing barcoded genetic variants into cells as pooled libraries and reading the barcodes out using massively multiplexed fluorescence in situ hybridization.
George Emanuel +2 more
openaire +4 more sources
Host selection-producing variations in the genome of hop stunt viroid
Virus Research, 2022 A random mutant pool of hop stunt viroid (HSVd) was created by shuffling cDNA fragments prepared from three natural HSVd variants obtained from grapevine, citrus, and plum.
Teruo Sano, Akiko Kashiwagi
doaj +1 more source