OVAS: an open-source variant analysis suite with inheritance modelling.

ABSTRACT:

Background

The advent of modern high-throughput genetics continually broadens the gap between the rising volume of sequencing data, and the tools required to process them. The need to pinpoint a small subset of functionally important variants has now shifted towards identifying the critical differences between normal variants and disease-causing ones. The ever-increasing reliance on cloud-based services for sequence analysis and the non-transparent methods they utilize has prompted the need for more in-situ services that can provide a safer and more accessible environment to process patient data, especially in circumstances where continuous internet usage is limited.

Results

To address these issues, we herein propose our standalone Open-source Variant Analysis Sequencing (OV

SUBMITTER: Mozere M 

PROVIDER: S-EPMC5806474 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature