Search Results - "Kirsche, Melanie"
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Automated assembly scaffolding using RagTag elevates a new tomato system for high-throughput genome editing
Published in Genome Biology (15-12-2022)“…Advancing crop genomics requires efficient genetic systems enabled by high-quality personalized genome assemblies. Here, we introduce RagTag, a toolset for…”
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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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Comprehensive analysis of structural variants in breast cancer genomes using single-molecule sequencing
Published in Genome research (01-09-2020)“…Improved identification of structural variants (SVs) in cancer can lead to more targeted and effective treatment options as well as advance our basic…”
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A diploid assembly-based benchmark for variants in the major histocompatibility complex
Published in Nature communications (22-09-2020)“…Most human genomes are characterized by aligning individual reads to the reference genome, but accurate long reads and linked reads now enable us to construct…”
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Genomic diversity of SARS-CoV-2 during early introduction into the Baltimore-Washington metropolitan area
Published in JCI insight (22-03-2021)“…The early COVID-19 pandemic was characterized by rapid global spread. In Maryland and Washington, DC, United States, more than 2500 cases were reported within…”
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Sapling: accelerating suffix array queries with learned data models
Published in Bioinformatics (05-05-2021)“…Abstract Motivation As genomic data becomes more abundant, efficient algorithms and data structures for sequence alignment become increasingly important. The…”
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Jasmine and Iris: population-scale structural variant comparison and analysis
Published in Nature methods (01-03-2023)“…The availability of long reads is revolutionizing studies of structural variants (SVs). However, because SVs vary across individuals and are discovered through…”
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Major Impacts of Widespread Structural Variation on Gene Expression and Crop Improvement in Tomato
Published in Cell (09-07-2020)“…Structural variants (SVs) underlie important crop improvement and domestication traits. However, resolving the extent, diversity, and quantitative impact of…”
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A complete reference genome improves analysis of human genetic variation
Published in Science (American Association for the Advancement of Science) (01-04-2022)“…Compared to its predecessors, the Telomere-to-Telomere CHM13 genome adds nearly 200 million base pairs of sequence, corrects thousands of structural errors,…”
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Semi-automated assembly of high-quality diploid human reference genomes
Published in Nature (London) (17-11-2022)“…The current human reference genome, GRCh38, represents over 20 years of effort to generate a high-quality assembly, which has benefitted society 1 , 2 …”
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Democratizing long-read genome assembly
Published in Cell systems (20-10-2021)“…De novo assembled genomes serve as the backbone for modern genomics. In an article in this issue of Cell Systems, Ekim et al. present the mdBG assembler that…”
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Benchmarking challenging small variants with linked and long reads
Published in Cell genomics (01-05-2022)“…Genome in a Bottle benchmarks are widely used to help validate clinical sequencing pipelines and develop variant calling and sequencing methods. Here we use…”
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