Sep 2026
Rapid Genome and Exome Sequencing as a First-Line Diagnostic Tool for Hospitalized Pediatric Kidney Disease Patients.
Jonathan Marquez, Abbey A. Scott, L. Kruidenier et al.
· Kidney360 · 0 citations
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Aug 2026
A high-resolution human pangenome structural variant resource for improved disease association
This work describes the full spectrum of genetic variation and shows that while 99% of the variants between any two genomes are single base-pair substitutions, 88% of the euchromatic variant base pairs are SVs, including insertions, deletions, duplications, and inversions.
J. Lin, J. Gustafson, J. Wertz et al.
· medRxiv · 0 citations