Results 41 to 50 of about 37,179 (261)
, 2020 The GATK (Genome Analysis ToolKit) has over 240 tools and more than 75,000 user community. Although these tools were developed to analyze human genomics data, we discovered that researchers around the globe are adopting these tools to analyze and publish results on bacterial pathogens.
openaire +2 more sources
PLoS ONE, 2012 While the importance of random sequencing errors decreases at higher DNA or RNA sequencing depths, systematic sequencing errors (SSEs) dominate at high sequencing depths and can be difficult to distinguish from biological variants.
Justin M Zook +4 more
doaj +1 more source
Wellcome Open Research, 2020 Multiple Nucleotide Variants (MNVs) are miscalled by the most widely utilised next generation sequencing analysis (NGS) pipelines, presenting the potential for missing diagnoses.
Matthew N. Wakeling +5 more
doaj +1 more source
Developing an Arvados BWA-GATK pipeline
, 2015 The video of this presentation is available on the BOSC YouTube channel: view video .
Prins, Pjotr +5 more
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Malaria Journal, 2023 Background Accurate variant calls from whole genome sequencing (WGS) of Plasmodium falciparum infections are crucial in malaria population genomics. Here a falciparum variant calling pipeline based on GATK version 4 (GATK4) was optimized and applied to ...
Karamoko Niaré +2 more
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Scientific Reports, 2021 Genetic variants causing underlying pharmacogenetic and disease phenotypes have been used as the basis for clinical decision-making. However, due to the lack of standards for next-generation sequencing (NGS) pipelines, reproducing genetic variants among ...
Jeong Hoon Lee +2 more
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Transposable Element–Driven PIEZO Mutation Enhances Locust Flight in Plateau Hypoxia
Advanced Science, EarlyView.Why transposable elements (TEs) persisted or expanded in genomes remains a mystery. Using integrated analysis of TE macro‐ and microevolution in locusts, our results showed that thousands of TE insertions promoted widespread adaptive variation. Subfamilies of candidate adaptive TEs amplified and reshaped species‐level genomic architecture.
Xuanzhao Li +8 more
wiley +1 more source
Journal of Animal Science and Biotechnology, 2023 Background Pan-genomics is a recently emerging strategy that can be utilized to provide a more comprehensive characterization of genetic variation. Joint calling is routinely used to combine identified variants across multiple related samples.
Shangqian Xie +3 more
doaj +1 more source