Clinical-grade validation of whole genome sequencing reveals robust detection of low-frequency variants and copy

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Updated: Feb 10, 2026

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

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Jenny Klintman1, Katerina Barmpouti1,2, Samantha J L Knight3,4

  • 1Molecular Diagnostic Centre, Department of Oncology, University of Oxford, Oxford, UK.

British Journal of Haematology
|May 30, 2018
PubMed

Keywords:
CLLGenomics Englandchronic lymphocytic leukaemiaprecision medicinewhole genome sequencing

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