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Resolving intra-repeat variation in medically relevant VNTRs from short-read sequencing data using the cardiovascular risk gene LPA as a model.

Silvia Di MaioPeter ZöscherHansi WeissensteinerLukas ForerJohanna F Schachtl-RiessStephan AmstlerGertraud StreiterCathrin PfurtschellerBernhard PaulweberFlorian KronenbergStefan CoassinSebastian Schönherr
Published in: Genome biology (2024)
Our approach paves the way for reliable variant detection in VNTRs at scale and we show that it is transferable to other dark regions, which will help unlock medical information hidden in VNTRs.
Keyphrases
  • healthcare
  • electronic health record
  • single cell
  • genome wide
  • copy number
  • health information
  • real time pcr
  • label free
  • gene expression
  • dna methylation
  • machine learning
  • deep learning
  • sensitive detection