Back to Search Start Over

Exome sequencing of multiple-sclerosis patients and their unaffected first-degree relatives

Authors :
Sheila Garcia-Rosa
Diana N. Nunes
Renan Valieris
Maria João Amorim
Amilton Antunes Barreira
Vanessa Daccach Marques
Guilherme Sciascia do Olival
Israel Tojal da Silva
Wilson Araújo da Silva Júnior
Emmanuel Dias-Neto
Vania Balardin Toller
Julio C. C. Lorenzi
Source :
BMC Research Notes, Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual), Universidade de São Paulo (USP), instacron:USP, BMC Research Notes, Vol 10, Iss 1, Pp 1-4 (2017)
Publication Year :
2017
Publisher :
BioMed Central, 2017.

Abstract

Objectives The understanding of complex multifactorial diseases requires the availability of a variety of data for a large-number of affected individuals. In this data note here we provide whole exome sequencing data from a set of non-familiar multiple-sclerosis (MS) patients as well as their unaffected first-degree relatives. This data might help the identification of genomic alterations, including single nucleotide polymorphisms, de novo variations and structural genomic variations, such as copy-number alterations that may impact this disease. Data description This dataset comprises the full exome of 28 Brazilian subjects grouped in eight distinct families, consisting of four complete trios (mother–patient–father) plus another four complete trios with one added unaffected sibling. In total, we present the full exome data of eight patients diagnosed with recurrent remittent multiple sclerosis. Diagnoses were made by experienced neurologists and all enrolled patients had at least 5 years of follow up and specific MS treatment. Exomes were sequenced from leukocyte-derived DNA, after the capture of exons using biotinylated probes, in the Ion Proton platform. For each exome we generated an average of 66.1 million good quality mapped reads with an average length of ~ 160nt. On average, for 90% of the exome a vertical coverage above 20× was reached.

Details

Language :
English
ISSN :
17560500
Volume :
10
Database :
OpenAIRE
Journal :
BMC Research Notes
Accession number :
edsair.doi.dedup.....2d5d238463d5833b60f058a44ff7f208