title: The long tail and rare disease research: the impact of next-generation sequencing for rare Mendelian disorders.
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.
authors.affiliation: Rare Genomics Institute,5225 Pooks Hills Road,Suite 1701N,Bethesda,MD 20814,USA.
authors.forename: Tony
authors.initials: T
authors.lastname: Shen
authors.affiliation: Rare Genomics Institute,5225 Pooks Hills Road,Suite 1701N,Bethesda,MD 20814,USA.
authors.forename: Ariel
authors.initials: A
authors.lastname: Lee
authors.affiliation: Rare Genomics Institute,5225 Pooks Hills Road,Suite 1701N,Bethesda,MD 20814,USA.
authors.forename: Carol
authors.initials: C
authors.lastname: Shen
authors.affiliation: Rare Genomics Institute,5225 Pooks Hills Road,Suite 1701N,Bethesda,MD 20814,USA.
authors.forename: C Jimmy
authors.initials: CJ
authors.lastname: Lin
mesh_terms: D035843:Biomedical Research / Q000379:methods*; D019295:Computational Biology / Q000379:methods; D059472:Exome / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D055106:Genome-Wide Association Study / Q000379:methods*; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D035583:Rare Diseases / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity