Aaron L. Halpern

The paper evaluates the Illumina Complete Long Read (ICLR) assay for metagenomic assembly, finding it produces higher contiguity and completeness compared to short-read and nanopore long-read methods.

This paper develops a method to accurately determine SMN1 and SMN2 copy numbers from whole-genome sequencing data, enabling SMA diagnosis and carrier screening with high precision and recall.

Strelka2 is a variant calling tool that improves accuracy and reduces compute cost for germline and somatic variant detection in clinical sequencing.