Clinical Omics and Informatics (COIN) Unit

Clinical Omics and Informatics (COIN) Unit

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Home Gateways Clinical Omics and Informatics (COIN) Unit
1-2 of 2 ARTICLES
 in 
https://doi.org/10.12688/wellcomeopenres.26627.1
Case Report metrics AWAITING PEER REVIEW
Case Report: Resolving a Diagnostic Odyssey in Spinal Muscular Atrophy Using HiFi Long-Read Whole Genome Sequencing
[version 1; peer review: awaiting peer review]
Melissa Nel, Jeannine M Heckmann, Gideon A Wiafe, Mohammed A Farahat, Nabeelah Peerbhai, Uirá S Melo, Jakob Hertzberg
Peer Reviewers Invited
  • Funders
  • Wellcome Trust
  • Gabriel Foundation
PUBLISHED 27 May 2026
https://doi.org/10.12688/wellcomeopenres.24788.1
Research Article metrics
Ancestral origin of amyotrophic lateral sclerosis pathogenic variants in South Africa
[version 1; peer review: 1 approved, 1 approved with reservations]
Erin Kinghorn, Jeannine Heckmann, Caitlin Uren, Marlo Möller, Yolandi Swart, Melissa Nel
Peer Reviewers Kyrah Thumbadoo; Andrew G L Douglas
  • Funder
  • Wellcome Trust
PUBLISHED 06 Oct 2025
1-2 of 2 ARTICLES

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