Rami Mehio

This paper introduces SpliceAI2, a deep learning model that improves identification and quantification of splice-altering variants and their effects on transcripts and disease.

The paper introduces DRAGEN, a scalable mosaic variant caller that detects low VAF variants with high accuracy and efficiency, and presents a benchmark for low-VAF variants.

Celeste provides a scalable cloud infrastructure for population-scale sequencing projects, including a variant-calling pipeline optimized for clinical variant detection.

The paper develops a benchmark for detecting low-frequency mosaic variants in the HG002 reference material using high-coverage sequencing data and validates its utility across multiple technologies.

DRAGEN provides fast and accurate genome analysis across 3,202 genomes, outperforming existing methods in variant detection speed and accuracy for various types including SNV, indel, STR, SV, and CNV.

The paper introduces DRAGEN's somatic variant calling pipeline, demonstrating its speed and accuracy in whole-genome sequencing tumor-normal analysis compared to existing tools.

The paper evaluates variant calling in difficult genomic regions using short- and long-read sequencing, showing improved performance with new methods and multi-technology approaches.