Brent S. Pedersen

Career Trajectory

Research Cluster Map

Direct collaborators. Node size = influence, colour = community, dashed = past collaboration.

• Human de novo mutation rates from a four-generation pedigree reference

  Nature · 2025-04-23 · 81 citations

• The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit

  npj Genomic Medicine · 2025-03-22 · 1 citations

• Identification of CNTN2 as a genetic modifier of PIGA-CDG in a family with incomplete penetrance and in Drosophila

  The American Journal of Human Genetics · 2025-02-12 · 2 citations

• Vcfexpress: flexible, rapid user-expressions to filter and format VCFsPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2024-11-06 · 1 citations

• sv-channels: filtering genomic deletions using one-dimensional convolutional neural networksPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2024-10-20 · 2 citations

• Identification of <i>CNTN2</i> as a genetic modifier of PIGA-CDG through pedigree analysis of a family with incomplete penetrance and functional testing in <i>Drosophila</i>Preprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2024-08-12

• A familial, telomere-to-telomere reference for human <i>de novo</i> mutation and recombination from a four-generation pedigreePreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2024-08-05 · 22 citations

• TRGT-denovo: accurate detection of <i>de novo</i> tandem repeat mutationsPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2024-07-19 · 6 citations