pone.0279644.g001.tif (76.07 kB)
Conversion of the variant position for genes on the template strand using the reference allele for whiB6_132_agtcg as example.
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posted on 2022-12-30, 18:30 authored by Lennert Verboven, Jody Phelan, Tim H. Heupink, Annelies Van RieConversion of the variant position for genes on the template strand using the reference allele for whiB6_132_agtcg as example.
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successfully converted 98next generation sequencingmycobacterium tuberculosis huge global effortdiv >< pcritical step towardsstandardized hgvs format56 clinical isolates339 clinical isolatestbprofiler classified 13tbprofiler classified 1058 %) classifiedgenomic variants translates)- endorsed catalogue15 %) variantsclinical practiceclinical carecatalogue format9 %)74 %)10 %)variants located356 variantsuncertain significancetier 1tb outbreaksingle variantsecond cohortrepresentative samplemade publiclarge numberjune 2021complex alongcatalogue hamperbioinformatics pipelinesbioinformatic analyses2 genes2 gene
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