Debutant iOS app and gene-disease complexities in clinical genomics and precision medicine.

ABSTRACT:

Background

The last decade has seen a dramatic increase in the availability of scientific data, where human-related biological databases have grown not only in count but also in volume, posing unprecedented challenges in data storage, processing, analysis, exchange, and curation. Next generation sequencing (NGS) advancements have facilitated and accelerated the process of identifying genetic variations. Adopting NGS with Whole-Genome and RNA sequencing in a diagnostic context has the potential to improve disease-risk detection in support of precision medicine and drug discovery. Several bioinformatics pipelines have been developed to strengthen variant interpretation by efficiently processing and analyzing sequence data, whereas many published results show how genomics data can be

SUBMITTER: Ahmed Z 

PROVIDER: S-EPMC6778157 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature