Researchers from the Icahn School of Medicine at Mount Sinai and Rockefeller University have discovered a new use for a long-standing computer concept called "blacklisting" commonly used as a form of access or spam control. to prevent unwanted blocks files and messages. Using blacklisting as a filter to work out genetic variations in patient genomes and exomes that cause no disease, researchers have successfully rationalized the identification of genetic drivers of disease. This method is described in the December 201
The sequencing of the entire exome – the process of identifying variations in protein-coding genes to determine the genetic basis of a particular disease – identifies tens of thousands of genetic variants, but few are considered pathogenic, that is, disease-causing. Traditionally, to identify pathogenic mutations, scientists must search through vast amounts of data and remove genetic variants that are unlikely to cause disease, slowing down the process of genetic analysis and subsequent clinical treatment. To address this cumbersome process, researchers from the Icahn School of Medicine and Rockefeller University have investigated and subsequently identified a large portion of the non-pathogenic genetic variants that generated the "black list". They then developed a program called ReFiNE and a web server that allows other researchers to automate the creation of their own blacklists.
"So far, there has been no practical published method for filtering out non-pathogenic substances variants that are common in human genomes and are not present in current genomic databases," said Yuval Itan, a lecturer, Assistant Professor of Genetics and Genomics at the Icahn School of Medicine and senior author of the publication. "Using the blacklist, researchers can now remove genetic" noise "and focus on true disease-causing mutations."
In view of the data-centric society in which we live, Dr. His hope is that this state-of-the-art tool can be used by clinicians, researchers, and scientists around the world to accelerate and accelerate gene analysis, accelerating the pace of genomic medicine.
The results of pediatric genomic epilepsy tests have often been reclassified
Patrick Maffucci el al. "Blacklisting variants common in private cohorts, but not in public databases, optimize the analysis of the human exome" PNAS (2018). www.pnas.org/cgi/doi/10.1073/pnas.1808403116