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HemoMIPs—Automated analysis and result reporting pipeline for targeted sequencing data
Targeted sequencing of genomic regions is a cost- and time-efficient approach for screening patient cohorts. We present a fast and efficient workflow to analyze highly imbalanced, targeted next-generation sequencing data generated using molecular inversion probe (MIP) capture. Our Snakemake pipeline...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7297380/ https://www.ncbi.nlm.nih.gov/pubmed/32497118 http://dx.doi.org/10.1371/journal.pcbi.1007956 |