Kasmintan A. Schrader

The paper identifies novel genetic mechanisms underlying missing heritability in HDGC-like families by integrating chromatin accessibility, promoter interactions, and whole-genome sequencing data.

This paper presents a long-read sequencing dataset of cancer samples, showing its ability to resolve structural variants, haplotypes, and methylation patterns in precision medicine.

This paper uses long-read DNA methylation sequencing and Strand-seq to detect parent-of-origin and haplotype chromosomes, achieving high accuracy in five trios.

The paper updates CDH1 variant curation guidelines to resolve conflicting interpretations and reduce variants of uncertain significance for clinical use.

The paper analyzes rare germline variation in cancer predisposing genes across cancer patients and controls to identify shared mutation properties and candidate susceptibility genes.