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

被引：5
作者：
Garcia-Rosa S. [1 ]
De Amorim M.G. [1 ]
Valieris R. [2 ]
Marques V.D. [3 ,4 ]
Lorenzi J.C.C. [4 ,5 ]
Toller V.B. [6 ]
Do Olival G.S. [6 ]
Da Silva Júnior W.A. [4 ,5 ]
Da Silva I.T. [2 ]
Barreira A.A. [3 ,4 ]
Nunes D.N. [1 ]
Dias-Neto E. [1 ,7 ]
机构：
[1] Lab. of Medical Genomics, International Research Center, A.C.Camargo Cancer Center, Rua Taguá 440, 1st Floor, São Paulo, 01508-010, SP
[2] Laboratory of Computational Biology and Bioinformatics, International Research Center, A.C.Camargo Cancer Center, Rua Taguá 440, 1st Floor, São Paulo, 01508-010, SP
[3] Department of Neurosciences, Clinical Neuroimmunology Division, Medical School and Hospital das Clínicas of Ribeirão Preto, University of São Paulo (USP), Avenida Bandeirantes, 3900, Ribeirão Preto, 14049-900, SP
[4] Center for Medical Genomics, HCFMRP/USP, Avenida Bandeirantes, 3900, Ribeirão Preto, 14049-900, SP
[5] Department of Genetics, Ribeirão Preto Medical School, University of São Paulo (USP), Avenida Bandeirantes, 3900, Ribeirão Preto, 14049-900, SP
[6] Neurosciences Research Group, Faculdade de Ciências Médicas da Santa Casa de São Paulo, Rua Doutor Cesário Motta Júnior, 61, Vila Buarque São Paulo, 01221-020, SP
[7] Lab. of Neurosciences (LIM-27), Institute of Psychiatry, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP
来源：
BMC Research Notes | / 10卷 / 1期
基金：
巴西圣保罗研究基金会;
关键词：
'de novo'; Inheritance; Multiple sclerosis; Remittent-recurrent; Whole exome sequencing;
D O I：
10.1186/s13104-017-3072-0
中图分类号：
学科分类号：
摘要：
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. © 2017 The Author(s).
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