A comparison of structural variant calling from short-read and nanopore-based whole-genome sequencing using optical genome mapping as a benchmark
The identification of structural variants (SVs) in genomic data represents an ongoing challenge because of difficulties in reliable SV calling leading to reduced sensitivity and specificity. We prepared high-quality DNA from 9 parent–child trios, who had previously undergone short-read whole-genome...
| Hlavní autoři: | , , , , , , , , |
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| Médium: | Journal article |
| Jazyk: | English |
| Vydáno: |
MDPI
2024
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