Benchmarking germline CNV calling tools from exome sequencing data
Abstract Whole-exome sequencing is an attractive alternative to microarray analysis because of the low cost and potential ability to detect copy number variations (CNV) of various sizes (from 1–2 exons to several Mb). Previous comparison of the most popular CNV calling tools showed a high portion of...
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Autores principales: | , , , , , |
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Formato: | article |
Lenguaje: | EN |
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Nature Portfolio
2021
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Acceso en línea: | https://doaj.org/article/74053e2546e143b9894809dc6ad427ac |
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