Introduction
Human being has started to explore the mystery of heredity, the passing of traits to one’s offspring, since a long time ago. Nowadays, we know that heredity is highly related to our genome. To understand more about the genome, an accurate method for doing variant calling - telling the difference of ones genome from a reference genome, is important. This project focus on doing variant calling from data generated by single molecule sequencing, a new technology that gave us the power to discover larger variant, but lacking the accuracy for calling short variations, using an artificial intelligence approach.
Scope
This project works on the data by Oxford Nanopore Technology (ONT), and focus in single nucleotide polymorphism (one base in the genome is changed to another) and short indels (insertion and deletion with length < 16).