PangyPlot is a genome browser that simplifies exploration of pangenome graphs, enabling visualization of genetic variation in populations with diverse haplotypes.

DOI 10.1101/2025.10.31.684064

humanwhole-genome sequencing

𝕏 PostBluesky

GeneticsbioRxivPreprintMar 28, 2022

High Quality Phasing Using Linked-Read Whole Genome Sequencing of Patient Cohorts Informs Genetic Understanding of Complex Traits

Scott Mastromatteo, Angela Chen, Jiafen Gong…·Lisa J. Strug

The paper uses linked-read sequencing to phase alleles in 477 CF patients, revealing haplotypes that explain disease mechanisms and contribute to understanding complex traits.

1 citation

humanwhole-genome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintMar 28, 2022

A cystic fibrosis lung disease modifier locus harbors tandem repeats associated with gene expression

Delnaz Roshandel, Scott Mastromatteo, Cheng Wang…·Lisa J. Strug

The paper identifies VNTRs near SLC9A3 associated with gene expression in CF nasal epithelia and shows their utility in explaining GWAS signals.

DOI 10.1101/2022.03.28.22272580

humanlong-read sequencing

𝕏 PostBluesky