Article
Comparative evaluation of the heterozygous variant standard deviation as a quality measure for next-generation sequencing.
Journal of biomedical informatics - 1 Nov 2022
Høy Hansen Marcus, Steensboe Lang Cecilie, Abildgaard Niels, Nyvold Charlotte Guldborg
Abstract excerpt
Next-generation sequencing holds unprecedented throughput in terms of informational content to cost. The technology has entered the scene in laboratory diagnostics and offers flexible workflows in biomedical research. However, the rapid acquisition of genomic data also gives rise to a substantial fraction of sequencing artifacts, causing the detection of false-positive germline variants or erroneous somatic...
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