Adam C. English

Cost-efficient long-read trio-barcoded adaptive sequencing improves rare disease diagnosis

Abstract Rare diseases often remain unsolved because causal genetic changes can be complex and thus missed by standard sequencing or difficult to prioritize. Long-read sequencing can reveal structural variants, repeat expansions, DNA methylation and inherited haplotypes, but trio...

The impact of structural variation on Alzheimer’s disease in the Alzheimer’s disease sequencing project

Structural variants (SV), genomic alterations spanning more than 50 base pairs, can significantly impact gene expression and protein function. However, their contribution to Alzheimer’s disease (AD) remains poorly understood. Leveraging a novel SV calling pipeline, we identified...