Litcius/Paper detail

Optical genome mapping identifies rare structural variations as predisposition factors associated with severe COVID-19

Nikhil Sahajpal, Chi-Yu Jill Lai, Alex Hastie, Ashis K. Mondal, Siavash R. Dehkordi, Caspar I. van der Made, Olivier Fédrigo, Farooq O. Al-Ajli, Sawan Jalnapurkar, Marta Byrska-Bishop, Rashmi Kanagal‐Shamanna, Brynn Levy, Maximilian Schieck, Thomas Illig, Silviu‐Alin Bacanu, Janet Chou, Adrienne G. Randolph, Amyn M. Rojiani, Michael C. Zody, Catherine A. Brownstein, Alan H. Beggs, Vineet Bafna, Erich D. Jarvis, Alexander Hoischen, Alka Chaubey, Ravindra Kolhe

2022iScience22 citationsDOIOpen Access PDF

Abstract

genes are the most intriguing candidates. This study is the first to systematically assess the potential role of SVs in the pathogenesis of COVID-19 severity and highlights the need to evaluate SVs along with sequencing variants to comprehensively associate genomic information with interindividual variability in COVID-19 phenotypes.

Topics & Concepts

Coronavirus disease 2019 (COVID-19)BiologyGenomeGeneticsPhenotypeGeneComputational biologyGenome-wide association studyGenetic variationGenomicsMedicineGenotypeDiseaseSingle-nucleotide polymorphismInfectious disease (medical specialty)PathologySARS-CoV-2 and COVID-19 ResearchCOVID-19 Clinical Research Studiesinterferon and immune responses