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Updated: Aug 23, 2025

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

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Influences of rare copy-number variation on human complex traits

Margaux L A Hujoel1, Maxwell A Sherman2, Alison R Barton3

  • 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA; Center for Data Sciences, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Cell
|October 28, 2022
PubMed

Keywords:
Complex traitsCopy-number variantsGenetic associationsHaplotypesStructural variation

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