Long read sequencing enhances pathogenic and novel variation discovery in patients with rare diseases

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Updated: May 22, 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

Published on: June 23, 2012

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Shruti Sinha1, Fatma Rabea2, Sathishkumar Ramaswamy3

  • 1Dubai Health Genomic Medicine Center, Dubai Health, Dubai, UAE. ajch_ssinha@dubaihealth.ae.

Nature Communications
|March 15, 2025
PubMed

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