Jesse D. Bengtsson

Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset

The paper introduces a data model and dataset for rare disease research, enabling interoperable multi-omic data integration across clinical sites.

Community-Driven Copy Number Variant Discovery at Scale: Results from a Rare Disease Genomics Hackathon

The paper presents a scalable CNV analysis workflow applied to rare disease cohorts, identifying 39 candidate pathogenic SVs within 2 days using collaborative tools and databases.

Investigation of a Pathogenic Inversion in UNC13D and Comprehensive Analysis of Chromosomal Inversions Across Diverse Datasets

The paper reports a pathogenic inversion in UNC13D and analyzes chromosomal inversions across multiple datasets to identify their molecular characteristics and implications in genetic diseases.

Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions

The paper investigates how different genome references affect inversion detection, showing that T2T-CHM13 and long-read sequencing improve resolution of challenging inversions.

Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures

The paper investigates DUP-TRP/INV-DUP genomic rearrangements in neurodevelopmental disorders, identifying four SV haplotypes and refining template switching points using multiple sequencing technologies.