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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...

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Publicat a:PLoS Comput Biol
Autors principals: Kleinert, Philip, Martin, Beth, Kircher, Martin
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2020
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7297380/
https://ncbi.nlm.nih.gov/pubmed/32497118
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pcbi.1007956
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