Results 11 to 20 of about 127,668 (260)

Population genetic variation characterised through serial independent pool-seq: the Cyprus Genome Project [PDF]

Scientific Reports
The Cyprus Genome Project characterizes the genetic landscape of the Cypriot population to address the lack of population-specific data in global repositories.
Athos Antoniades, Jianxiang Chi, Cameron Brown, Paris Vogazianos, Emily Charalambous, Dimitris Vrachnos, Aristos Aristodimou, Andri Miltiadous, Andri Papaloizou, Anita Koumouli, Petroula Gerasimou, Yiannos Kyprianou, Paul Costeas   +12 more
doaj   +2 more sources

Exodus: sequencing-based pipeline for quantification of pooled variants

Bioinformatics, 2022
AbstractSummaryNext-Generation Sequencing is widely used as a tool for identifying and quantifying microorganisms pooled together in either natural or designed samples. However, a prominent obstacle is achieving correct quantification when the pooled microbes are genetically related.
Ilya Vainberg-Slutskin, Noga Kowalsman, Yael Silberberg, Tal Cohen, Jenia Gold, Edith Kario, Iddo Weiner, Inbar Gahali-Sass, Sharon Kredo-Russo, Naomi B. Zak, Merav Bassan   +10 more
openaire   +2 more sources

vipR: variant identification in pooled DNA using R [PDF]

Bioinformatics, 2011
Abstract Motivation: High-throughput-sequencing (HTS) technologies are the method of choice for screening the human genome for rare sequence variants causing susceptibility to complex diseases. Unfortunately, preparation of samples for a large number of individuals is still very cost- and labor intensive. Thus, recently, screens for rare
André Altmann, Peter Weber, Carina Quast, Monika Rex-Haffner, Elisabeth B. Binder, Bertram Müller-Myhsok   +5 more
openaire   +3 more sources

Evaluation of pooled association tests for rare variant identification [PDF]

BMC Proceedings, 2011
Abstract Genome-wide association studies have successfully identified many common variants associated with complex human diseases. However, a large portion of the remaining heritability cannot be explained by these common variants. Exploring rare variants associated with diseases is now catching more attention.
Lin, Wan-Yu, Zhang, Boshao, Yi, Nengjun, Gao, Guimin, Liu, Nianjun   +4 more
openaire   +2 more sources

Next Generation Sequencing of Pooled Samples: Guideline for Variants’ Filtering [PDF]

Scientific Reports, 2016
AbstractSequencing large number of individuals, which is often needed for population genetics studies, is still economically challenging despite falling costs of Next Generation Sequencing (NGS). Pool-seq is an alternative cost- and time-effective option in which DNA from several individuals is pooled for sequencing. However, pooling of DNA creates new
Anand Santosh, Anand Santosh, Anand Santosh, Mangano Eleonora, Barizzone Nadia, Barizzone Nadia, Bordoni Roberta, Sorosina Melissa, Clarelli Ferdinando, Corrado Lucia, Corrado Lucia, Boneschi Filippo Martinelli, Boneschi Filippo Martinelli, D'Alfonso Sandra, D'Alfonso Sandra, De Bellis Gianluca   +15 more
openaire   +7 more sources

Effective detection of rare variants in pooled DNA samples using Cross-pool tailcurve analysis [PDF]

Genome Biology, 2011
AbstractSequencing targeted DNA regions in large samples is necessary to discover the full spectrum of rare variants. We report an effective Illumina sequencing strategy utilizing pooled samples with novel quality (Srfim) and filtering (SERVIC 4 E) algorithms.
Niranjan, Tejasvi S, Adamczyk, Abby, Bravo, Héctor Corrada, Taub, Margaret A, Wheelan, Sarah J, Irizarry, Rafael, Wang, Tao   +6 more
openaire   +4 more sources

Rare variant discovery and calling by sequencing pooled samples with overlaps [PDF]

Bioinformatics, 2012
Abstract Motivation: For many complex traits/diseases, it is believed that rare variants account for some of the missing heritability that cannot be explained by common variants. Sequencing a large number of samples through DNA pooling is a cost-effective strategy to discover rare variants and to investigate their associations with ...
Wenhui Wang 0003, Xiaolin Yin, Yoon Soo Pyon, Matthew Hayes, Jing Li 0002   +4 more
openaire   +2 more sources

Colour Constancy: Biologically-inspired Contrast Variant Pooling Mechanism [PDF]

Procedings of the British Machine Vision Conference 2017, 2017
Pooling is a ubiquitous operation in image processing algorithms that allows for higher-level processes to collect relevant low-level features from a region of interest. Currently, max-pooling is one of the most commonly used operators in the computational literature.
Arash Akbarinia, Raquel Gil Rodríguez, C. Alejandro Párraga   +2 more
openaire   +3 more sources

Comparison of similarity-based tests and pooling strategies for rare variants [PDF]

BMC Genomics, 2013
As several rare genomic variants have been shown to affect common phenotypes, rare variants association analysis has received considerable attention. Several efficient association tests using genotype and phenotype similarity measures have been proposed in the literature.
Zakharov, S, Salim, A, Thalamuthu, A
openaire   +3 more sources

Convolutional Neural Networks: A Roundup and Benchmark of Their Pooling Layer Variants

Algorithms, 2022
One of the essential layers in most Convolutional Neural Networks (CNNs) is the pooling layer, which is placed right after the convolution layer, effectively downsampling the input and reducing the computational power required. Different pooling methods have been proposed over the years, each with its own advantages and disadvantages, rendering them a ...
Nikolaos-Ioannis Galanis, Panagiotis Vafiadis, Kostas-Gkouram Mirzaev, George A. Papakostas   +3 more
openaire   +2 more sources