ReFiNE procedure: self-created to create a list of non-pathogenic genetic variants.

Researchers at the Icahn School of Medicine at Mount Sinai and Rockefeller University have discovered a new use for a long-term computational concept called "blacklist" that is often used as a form of access or spam control to block unwanted files and messages.
researchers used blacklists as filters to select genetic variations in the genomes and exosome groups of patients who do not cause the disease, successfully simplifying the identification of the disease's genetic drivers.
the method is described in the December 2018 proceedings of the Proceedings of the National Academy of Sciences.
in the sequencing of the entire exoplanet group - the process of identifying the variation of the protein-coding gene to determine the genetic basis of any given disease - identified tens of thousands of genetic variants, but only a few were considered pathogenic, which means causing the disease.
tradition, in order to identify disease-causing mutations, scientists have had to screen large amounts of data and remove genetic mutations that are unlikely to cause the disease, slowing the process of genetic analysis and subsequent clinical treatment.
to solve this tedious process, researchers from icing school of medicine and Rockefeller University investigated and subsequently identified most of the non-pathogenic genetic variants, from which a "black list" emerged.
after that, they developed a program called ReFiNE, as well as a corresponding web server that other researchers could use to automatically create their own blacklists. "So far, there is no viable way to filter out common non-pathogenic variants in the human genome, and the current genomics database does not exist," said Dr. Yuval Itan, an assistant professor of genetics and genomics.

the Icahn School of Medicine and senior author of the publication.
", "Using the blacklist, researchers are now able to eliminate genetic 'noise' and focus on the mutations that actually cause the disease."
" Dr. Yuval notes that in our data-centric society, efficiency is key.
he hopes the modern tool could be used by clinicians, researchers and scientists around the world to perform faster and more accurate genetic analysis to speed up the pace of genomic medicine.
Source: Thundernet Space.