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...

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Detalles Bibliográficos
Autores principales: Wang, Ning, Lysenkov, Vladislav, Orte, Katri, Kairisto, Veli, Aakko, Juhani, Khan, Sofia, Elo, Laura L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2022
Materias:
Research Article
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

Internet

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

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