Miranda Pg Zalusky

EpiSignaLR: an open resource for genome-wide episignature analysis from methylation-aware short- and long-read sequencing

The paper develops EpiSignaLR, a resource for genome-wide episignature analysis using methylation-aware sequencing data, identifying DMRs and classifiers for three neurodevelopmental disorders.

Accurate repeat expansion genotyping from whole-genome and real-time targeted nanopore sequencing with Mahi-mahi

Mahi-mahi accurately genotypes repeat expansions from nanopore sequencing data, matching orthogonal methods and identifying pathogenic alleles.

A comprehensive assessment of tandem repeat genotyping methods for Nanopore long-read genomes

This paper benchmarks 7 TR genotyping tools using Nanopore long-read data, finding that no single tool is best across all metrics, and that sequence-level accuracy is crucial for clinical and population studies.

Determinants of haplotype phasing accuracy in long-read human genome sequencing

This study evaluates factors affecting haplotype phasing accuracy in long-read sequencing, showing that T2T reference genomes and longer reads improve performance.

Ultra-fast sample-to-sequencing workflow for clinical diagnostics using micropillars

This paper introduces an integrated microfluidic workflow for Oxford Nanopore sequencing that reduces hands-on time and sample loss while enabling high-quality library preparation from small sample volumes.

A Diagnostic Blind Spot: Deep intronic SVA_E Insertion identified as the most Common Pathogenic Variant Associated with Canavan Disease

The paper identifies a common intronic SVA_E insertion in ASPA as the most frequent pathogenic variant in Canavan disease using long-read sequencing.

Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation

The paper uses long-read sequencing on 100 samples from the 1000 Genomes Project to identify structural variants and improve understanding of human genetic variation.

3-hour genome sequencing and targeted analysis to rapidly assess genetic risk

This study demonstrates rapid whole-genome sequencing and targeted analysis within three hours to assess genetic risk in a newborn, showing they are not affected or a carrier for a specific Mendelian condition.