The long tail and rare disease research: the impact of next-generation sequencing for rare Mendelian disorders

Tony Shen; Ariel Lee; Carol Shen; C Jimmy Lin

doi:10.1017/S0016672315000166

The long tail and rare disease research: the impact of next-generation sequencing for rare Mendelian disorders

Genet Res (Camb). 2015 Sep 14:97:e15. doi: 10.1017/S0016672315000166.

Authors

Tony Shen¹, Ariel Lee¹, Carol Shen¹, C Jimmy Lin¹

Affiliation

¹ Rare Genomics Institute,5225 Pooks Hills Road,Suite 1701N,Bethesda,MD 20814,USA.

Abstract

There are an estimated 6000-8000 rare Mendelian diseases that collectively affect 30 million individuals in the United States. The low incidence and prevalence of these diseases present significant challenges to improving diagnostics and treatments. Next-generation sequencing (NGS) technologies have revolutionized research of rare diseases. This article will first comment on the effectiveness of NGS through the lens of long-tailed economics. We then provide an overview of recent developments and challenges of NGS-based research on rare diseases. As the quality of NGS studies improve and the cost of sequencing decreases, NGS will continue to make a significant impact on the study of rare diseases moving forward.

Publication types

Review

MeSH terms

Biomedical Research / methods*
Computational Biology / methods
Exome / genetics
Genetic Predisposition to Disease / genetics
Genome-Wide Association Study / methods*
High-Throughput Nucleotide Sequencing / methods*
Humans
Rare Diseases / diagnosis
Rare Diseases / genetics*
Rare Diseases / therapy
Reproducibility of Results
Sensitivity and Specificity