Localization of association signal from risk and protective variants in sequencing studies
Frontiers in Genetics, 2012 Aggregating information across multiple variants in a gene or region can improve power for rare variant association testing. Power is maximized when the aggregation region contains many causal variants and few neutral variants.
Abra eBrisbin +4 more
doaj +1 more source
Molecular classification of blood and bleeding disorder genes
npj Genomic Medicine, 2021 The advances and development of sequencing techniques and data analysis resulted in a pool of informative genetic data, that can be analyzed for informing decision making in designing national screening, prevention programs, and molecular diagnostic ...
Batoul Baz +5 more
doaj +1 more source
Evaluation of variant detection software for pooled next-generation sequence data [PDF]
BMC Bioinformatics, 2015 Despite the tremendous drop in the cost of nucleotide sequencing in recent years, many research projects still utilize sequencing of pools containing multiple samples for the detection of sequence variants as a cost saving measure. Various software tools exist to analyze these pooled sequence data, yet little has been reported on the relative accuracy ...
Howard Huang +2 more
openaire +2 more sources
A pooled RT-PCR testing strategy for more efficient COVID-19 pandemic management
International Journal of Infectious Diseases, 2022 : Objectives: Reverse transcription polymerase chain reaction (RT-PCR) testing is indispensable in management of the coronavirus disease 2019 (COVID-19) pandemic.
Akif Ayaz +3 more
doaj +1 more source
VarScan: variant detection in massively parallel sequencing of individual and pooled samples [PDF]
Bioinformatics, 2009 Abstract Summary: Massively parallel sequencing technologies hold incredible promise for the study of DNA sequence variation, particularly the identification of variants affecting human disease. The unprecedented throughput and relatively short read lengths of Roche/454, Illumina/Solexa, and other platforms have spurred development of a ...
Daniel C. Koboldt +8 more
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Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans. [PDF]
PLoS Genetics, 2013 Whole-exome or gene targeted resequencing in hundreds to thousands of individuals has shown that the majority of genetic variants are at low frequency in human populations.
Ferran Casals +20 more
doaj +1 more source
Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER [PDF]
Journal of Visualized Experiments, 2012 As DNA sequencing technology has markedly advanced in recent years(2), it has become increasingly evident that the amount of genetic variation between any two individuals is greater than previously thought(3). In contrast, array-based genotyping has failed to identify a significant contribution of common sequence variants to the phenotypic variability ...
Vallania, Francesco +4 more
openaire +2 more sources
A mixture model for determining SARS-Cov-2 variant composition in pooled samples [PDF]
Bioinformatics, 2022 Abstract Motivation Despite of the fast development of highly effective vaccines to control the current COVID–19 pandemics, the unequal distribution and availability of these vaccines worldwide and the number of people infected in the world lead to the continuous emergence of Severe Acute ...
Renan Valieris +5 more
openaire +3 more sources
Estimating Allele Frequency from Next-Generation Sequencing of Pooled Mitochondrial DNA Samples
Frontiers in Genetics, 2011 Background: Both common and rare mitochondrial DNA (mtDNA) variants may contribute to genetic susceptibility to some complex human diseases. Next-generation sequencing of pooled mtDNA samples may represent an cost-effective approach for large-scale ...
Tao eWang +4 more
doaj +1 more source
Quantitative tRNA-sequencing uncovers metazoan tissue-specific tRNA regulation
Nature Communications, 2020 The relative abundance of specific tRNA can impact protein production rate, folding, and messenger RNA stability. Here the authors describe QuantM-tRNA seq — a method to monitor tRNA abundance and sequence variants — and uncover distinctions in ...
Otis Pinkard +3 more
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