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Tool evaluation for the detection of variably sized indels from next generation whole genome and targeted sequencing data
Insertions and deletions (indels) in human genomes are associated with a wide range of phenotypes, including various clinical disorders. High-throughput, next generation sequencing (NGS) technologies enable the detection of short genetic variants, such as single nucleotide variants (SNVs) and indels...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8916674/ https://www.ncbi.nlm.nih.gov/pubmed/35176018 http://dx.doi.org/10.1371/journal.pcbi.1009269 |