Bioinformatics and Computational Tools for Next-Generation Sequencing Analysis in Clinical Genetics.

ABSTRACT: Clinical genetics has an important role in the healthcare system to provide a definitive diagnosis for many rare syndromes. It also can have an influence over genetics prevention, disease prognosis and assisting the selection of the best options of care/treatment for patients. Next-generation sequencing (NGS) has transformed clinical genetics making possible to analyze hundreds of genes at an unprecedented speed and at a lower price when comparing to conventional Sanger sequencing. Despite the growing literature concerning NGS in a clinical setting, this review aims to fill the gap that exists among (bio)informaticians, molecular geneticists and clinicians, by presenting a general overview of the NGS technology and workflow. First, we will review the current NGS platforms, focusing on the

SUBMITTER: Pereira R 

PROVIDER: S-EPMC7019349 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature