Related Experiment Video

Updated: Sep 5, 2026

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

Long-read Sequences Mapped to a Complete Reference Genome Uncover Uncaptured Structural Variants across the

Pamela Lurie1, Medhat Mahmoud2, Aparna Haldipur3

  • 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; USDA/ARS Children's Nutrition Research Center, Baylor College of Medicine, Houston, TX, USA; Childhood Complex Disease Genomics Section, Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

HGG Advances
|September 4, 2026
PubMed

Keywords:
SNVgenomehumanreferencestructural variation

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