Stephanie M. Yan

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

The paper analyzes gene expression and splicing variation across diverse human populations, identifying population-specific and shared genetic regulatory elements.

The paper identifies novel transcripts, eQTLs, and caQTLs in African populations and fine-maps GWAS signals for complex diseases.

A gapless 3.055 billion bp human genome from HiFi and ultra-long nanopore reads resolves all centromeric arrays and acrocentric p-arms, adding 182 Mbp of new sequence.

The T2T-CHM13 reference genome improves read mapping and variant calling across diverse samples, reducing false positives and enabling novel variant discovery.

This paper introduces a statistical method to distinguish meiotic and mitotic aneuploidies using low-coverage whole-genome sequencing data from IVF embryos, improving the accuracy of preimplantation genetic testing.