Search Results - "Smolka, Moritz"
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Accurate detection of complex structural variations using single-molecule sequencing
Published in Nature methods (01-06-2018)“…Structural variations are the greatest source of genetic variation, but they remain poorly understood because of technological limitations. Single-molecule…”
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Characterization of cephalic and non-cephalic sensory cell types provides insight into joint photo- and mechanoreceptor evolution
Published in eLife (05-08-2021)“…Rhabdomeric opsins (r-opsins) are light sensors in cephalic eye photoreceptors, but also function in additional sensory organs. This has prompted questions on…”
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Detection of mosaic and population-level structural variants with Sniffles2
Published in Nature biotechnology (02-01-2024)“…Calling structural variations (SVs) is technically challenging, but using long reads remains the most accurate way to identify complex genomic alterations…”
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Publisher Correction: Detection of mosaic and population-level structural variants with Sniffles2
Published in Nature biotechnology (22-01-2024)Get full text
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Teaser: Individualized benchmarking and optimization of read mapping results for NGS data
Published in Genome Biology (22-10-2015)“…Mapping reads to a genome remains challenging, especially for non-model organisms with lower quality assemblies, or for organisms with higher mutation rates…”
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An international virtual hackathon to build tools for the analysis of structural variants within species ranging from coronaviruses to vertebrates [version 1; peer review: 4 approved with reservations]
Published in F1000 research (2021)“…In October 2020, 62 scientists from nine nations worked together remotely in the Second Baylor College of Medicine & DNAnexus hackathon, focusing on different…”
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