Publications by authors named "Mikhail O Ushakov"
Brief Bioinform
January 2024
Article Synopsis
- Next-generation sequencing (NGS) has transformed rare disease diagnostics, yet the diagnosis rate is still lower than anticipated despite using whole exome and genome sequencing.
- * Challenges in NGS data analysis include issues with the reference genome quality, coverage bias, and accuracy in detecting variants, especially in complex genomic regions.
- * The paper emphasizes the difficulties in annotating and interpreting genetic variants, particularly for coding and non-coding regions, while pointing towards future research to improve the effectiveness of NGS in diagnosing diseases.*
Article Synopsis
- The study investigates the genetic factors influencing COVID-19 severity using a cohort of 840 patients from Russia, aiming to address challenges of cohort size and genome coverage in previous research.
- While no significant gene or pathway-level associations were found, the researchers identified eleven candidate loci linked to various quantitative traits in COVID-19 patients.
- Notably, a risk score derived from certain genetic variants was able to predict hospitalization severity and outcomes, showcasing the potential of using quantitative traits for identifying genetic risk factors in COVID-19 research.
