It’s been over a year since the COVID-19 pandemic took the world by storm. The unexpected deadly disease changed the way we live and impacted the global economy. Worldwide, millions of people have been infected and died. Some of the most common symptoms include cough, fever, tiredness, body aches, and respiratory issues. People who survive the disease often suffer from post-COVID symptoms that can last for weeks or months after being infected. Some of the most common post-COVID symptoms are loss of smell or taste, difficulty breathing, depression or anxiety. These symptoms can worsen if the person exerts themself physically or mentally.
Since vaccines have only recently begun to be offered to the general public, extensive precautions must still be taken to avoid infection and overwhelming the medical system. Hygiene protocols, social distancing, wearing a face mask, and even lockdowns are still being implemented in many places. Even though the global population has started to receive vaccines, there isn’t enough data available on what the effect of new variants will be.
COVID-19 is a disease that not only affects high-risk individuals or those who have pre-existing conditions, anyone, no matter how healthy, can be infected by the disease. This has led healthcare professionals to determine that the susceptibility someone has to COVID-19 depends on their genome’s immune response.
The COVID-19 Host Genome Structural Variation Consortium was created with the aim to find data on how a genome’s structural variation is correlated with how an individual responds to the infection. Research on the issue focuses on studying genomic factors that affect the different stages of the disease: infection, progression, and recovery. The consortium meets online weekly and membership is targeted toward organizations that provide data and analytical support.
Using optical genome mapping (OGM) with the Bionano Saphyr® system and Bionano Access software, healthcare professionals carried out a structural variation analysis on COVID-19 patients. The results provided genome-wide insights into deletions, duplications, insertions, inversions, and balanced translocations. Additionally, findings focused on the role genes play in a COVID-19 infection and how that affects the body’s immune response.
This emerging evidence suggests that a patient’s genes determine how seriously the disease will impact their health. Early efforts used short-read sequencing data or whole-exome to detect single nucleotide variants and short indels. However, those approaches were unable to identify several types of variants which make up a significant proportion of variants among patients.
In order to get comprehensive insight, the study used OGM performed by Bionano’s Saphyr system. Structural variants were identified in thirty-seven critically ill COVID-19 patients and three separate analyses were initiated. To identify rare structural variants in these candidates, a whole-genome analysis was performed. The patients’ structural variants were compared to those in the general population by calculating ratios to determine top-ranked genes. The results of this study confirmed genes directly impact the level of severity in which COVID-19 may affect a patient. Additionally, the study shows OGM is an effective tool that identifies large structural variants that can determine disease outcomes and afford comprehensive genomic data associated with COVID-19 infections and mortality.
Learn more about how Bionano Genomics is helping healthcare professions gain insights into the role of host genetics in the predisposition of COVID-19 severity, as well as several other diseases. For more information on how to get OGM by the Bionano Saphyr system, contact us through our website bionanogenomics.com or give us a call at 858.888.7600.
