Wait, I can totes guess what you are thinking right now: "what is VAR-MD?" I know I am a mind reader but shh don't tell people. Haha anyways, from reading the abstract of this article I learned that researchers have developed a new software tool called VAR-MD. The reason for this creation is because it is now an easier way to analyze variants generated by exome sequencing of families with rare Mendelian disease.
Now that we know why it was developed... you are probably wondering: "what exactly does this software tool do?"
To answer that question, VAR-MD analyzes the DNA sequence variants produced by human exome sequencing. VAR-MD generates a ranked list of variants using predicted pathogenicity (the ability of a pathogen to produce an infectious disease in an organism), Mendelian inheritance models, genotype quality and population variant frequency data.
Researchers tested VAR-MD by using two previously solved data sets and one unsolved data set. In the solved cases, the correct variant was listed at the top of VAR-MD's variant ranking. In the unsolved case, the correct variant was highly ranked allowing for subsequent identification and validation. It was concluded that, with the use of family-based, annotated next generation sequencing data, VAR-MD has the potential to enhance mutation identification. Due to the development of VAR-MD, scientist predict that as the reference databases, such as dbSNP and HGMD, continue to improve, software performance will advance as well. Ain't that neat?!
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