Maya Strahl

The paper introduces a framework combining long-read sequencing and a new tool to fully characterize haplotype diversity in the human immunoglobulin heavy chain locus, demonstrating high accuracy and scalability.

The paper screens healthy elderly individuals to identify those resilient to genetic diseases despite high genetic risk, finding 141 individuals without associated disease despite pathogenic variants.

The paper uses a nanofluidic platform to enable single-cell phenotypic and genetic profiling of ovarian cancer cells, revealing clonal diversity and TP53 mutation patterns associated with tumor heterogeneity.

Combining amplification-free CRISPR-Cas9 targeted enrichment with Single Molecule, Real-Time (SMRT) long-read sequencing captures and sequences human repeat-expansion disease loci across HTT, FMR1, C9orf72, and ATXN10 without PCR bias.