Rebecca Serra Mari

Complete genomes of a multi-generational pedigree to expand studies of genetic and epigenetic inheritance

The paper presents T2T reference genomes from a multi-generational pedigree to study genetic and epigenetic inheritance across the complete genome.

Haplotype-resolved assembly of a tetraploid potato genome using long reads and low-depth offspring data

This paper presents a method for haplotype-resolved assembly of a tetraploid potato genome using long reads and low-depth offspring data, achieving high-quality chromosome-level assemblies with haplotype-specific resolution.

Mako: a graph-based pattern growth approach to detect complex structural variants

Mako detects complex structural variants using a graph-based pattern growth approach, achieving 70% validation rate on real data and identifying 15 CSV types including two novel ones.

De novo assembly of 64 haplotype-resolved human genomes of diverse ancestry and integrated analysis of structural variation

The paper presents 64 haplotype-resolved human genomes using long-read sequencing and identifies structural variants, SV-eQTLs, and adaptive selection candidates.

Haplotype Threading: Accurate Polyploid Phasing from Long Reads

This paper introduces a novel two-stage method for polyploid haplotype phasing using long reads, achieving lower error rates than existing methods in challenging regions.