Search results for "GATK"

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Reliability of genomic variants across different next-generation sequencing platforms and bioinformatic processing pipelines

2021

Abstract Background Next Generation Sequencing (NGS) is the fundament of various studies, providing insights into questions from biology and medicine. Nevertheless, integrating data from different experimental backgrounds can introduce strong biases. In order to methodically investigate the magnitude of systematic errors in single nucleotide variant calls, we performed a cross-sectional observational study on a genomic cohort of 99 subjects each sequenced via (i) Illumina HiSeq X, (ii) Illumina HiSeq, and (iii) Complete Genomics and processed with the respective bioinformatic pipeline. We also repeated variant calling for the Illumina cohorts with GATK, which allowed us to investigate the e…

Aginglcsh:QH426-470lcsh:BiotechnologyLongevity610 MedizinGATK ; Next-generation sequencing (NGS) technologies ; Illumina ; Longevity ; Complete genomics ; Healthy aging ; Wellderly ; Aging ; Platform-biasesPlatform-biasesPolymorphism Single Nucleotide570 Life sciencesIlluminaNext-generation sequencing (NGS) technologieslcsh:TP248.13-248.65610 Medical sciences620 Engineering and allied operationsHumansComputational BiologyHigh-Throughput Nucleotide SequencingReproducibility of ResultsGATKGenomicsPhysik (inkl. Astronomie)620 Ingenieurwissenschaften und MaschinenbauWellderlylcsh:GeneticsCross-Sectional StudiesHealthy agingComplete genomics570 BiowissenschaftenResearch Article
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