ELBAY E. ALIYEV

This paper benchmarks 7 TR genotyping tools using Nanopore long-read data, finding that no single tool is best across all metrics, and that sequence-level accuracy is crucial for clinical and population studies.

The paper introduces criTRia, a framework to evaluate TR locus-disease relationships, curating 65 loci and identifying inconsistencies in existing gene-level classifications.

This study identifies 135 ASD-associated protein-coding genes using whole-genome sequencing data from 11,312 individuals and exome sequencing from over 18,000 trios, with a false discovery rate of 80%.