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Direct Comparative Analysis of a Pharmacogenomics Panel with PacBio Hifi ® Long-Read and Illumina Short-Read Sequencing.

David BarthelemyElodie BelmonteLaurie Di PillaClaire BardelEve DuportVeronique GautierLéa Payen
Published in: Journal of personalized medicine (2023)
Combining an optimized variant-calling pipeline and with direct phasing analysis, LRS is a robust technique for PGx analysis that can minimize the risk of mis-haplotyping.
Keyphrases
  • single molecule
  • data analysis