Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.

H, Rafehi; DJ, Szmulewicz; MF, Bennett; NLM, Sobreira; K, Pope; KR, Smith; G, Gillies; P, Diakumis; E, Dolzhenko; MA, Eberle; MG, Barcina; DP, Breen; AM, Chancellor; PD, Cremer; MB, Delatycki; BL, Fogel; A, Hackett; GM, Halmagyi; S, Kapetanovic; A, Lang; S, Mossman; W, Mu; P, Patrikios; SL, Perlman; I, Rosemergy; E, Storey; SRD, Watson; MA, Wilson; DS, Zee; D, Valle; DJ, Amor; M, Bahlo; PJ, Lockhart

doi:10.1016/j.ajhg.2019.05.016

Public

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.

Shared by NobleBlocks on Jun 20, 2019 • 12:00 AM UTC

Authors:

Rafehi H

Szmulewicz DJ

Bennett MF

Abstract

Genomic technologies such as next-generation sequencing (NGS) are revolutionizing molecular diagnostics and clinical medicine. However, these approaches have proven inefficient at identifying pathogenic repeat expansions. Here, we apply a collection of bioinformatics tools that can be utilized to id...

Subject

short tandem repeats

Ataxia

Whole-genome Sequencing

Research Assistant

AI chat, annotations, notes & similar papers

Finding related papers...

Discussions

(0)

No comments yet

Be the first to share your thoughts!