Search Results - "Petrovski, Roman"
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Paragraph: a graph-based structural variant genotyper for short-read sequence data
Published in Genome Biology (19-12-2019)“…Accurate detection and genotyping of structural variations (SVs) from short-read data is a long-standing area of development in genomics research and clinical…”
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Journal Article -
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ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions
Published in Bioinformatics (01-11-2019)“…Abstract Summary We describe a novel computational method for genotyping repeats using sequence graphs. This method addresses the long-standing need to…”
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Journal Article -
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Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms
Published in Bioinformatics (15-08-2013)“…An ultrafast DNA sequence aligner (Isaac Genome Alignment Software) that takes advantage of high-memory hardware (>48 GB) and variant caller (Isaac Variant…”
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Journal Article