New year, new work and new posts about Bioinformatics, NGS sequencing e Machine learning!

Friday, March 21, 2014

Hi all,

It has been a while since my last post at the blog. No, I didn't abandon the blog! It has happened many events at my life since november that I decided to pause a bit my posts marathon and started to organize my work life! The best news this year is that I am now facing new challenges on machine learning, data mining, big data and now on: bioinformatics!! That's right.  I am now CTO of Genomika Diagnósticos, a brazilian genetics laboratory at Recife, Pernambuco.  The laboratory combines the state-of-art genetic testing with comprehensive interpretation of test results by specialists, geneticists to provide clinically relevant molecular tests for a variety of genetic disorders and risk factors.

My work there now is work with NGS (next-gen sequencing) tools to support the exome and genome sequencing to analyse genes and exons in panels to detect any significant genetic variations, which are candidates to cause the patient's phenotype. There are a lot of work to do, so in the next weeks I will post some tutorials about bioinformatics, machine learning, parallelism and big data applied on genoma sequencing.

This field is a novel study field and there are many applications related to disease detection, prevention, and treatment. Could you imagine that sequencing DNA would cost more than $10,000 dollars in 2001 and it has been decreasing exponentially the cost of the procedure.

My next posts will talk about how DNA sequencing works and how machine learning and data ming can be applied in this exciting and promising field!


Marcel Caraciolo