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Exome sequencing of multiple-sclerosis patients and their unaffected first-degree relatives
- 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.
- Subjects :
- 0301 basic medicine
lcsh:Medicine
Single-nucleotide polymorphism
‘de novo’
Disease
Data Note
General Biochemistry, Genetics and Molecular Biology
Multiple sclerosis
03 medical and health sciences
Exon
0302 clinical medicine
Databases, Genetic
Exome Sequencing
medicine
Humans
Exome
Family
First-degree relatives
lcsh:Science (General)
lcsh:QH301-705.5
Exome sequencing
Genetics
Inheritance
business.industry
lcsh:R
Whole exome sequencing
General Medicine
Unaffected sibling
medicine.disease
Remittent-recurrent
030104 developmental biology
lcsh:Biology (General)
SEQUENCIAMENTO GENÉTICO
business
030217 neurology & neurosurgery
lcsh:Q1-390
Subjects
Details
- Language :
- English
- ISSN :
- 17560500
- Volume :
- 10
- Database :
- OpenAIRE
- Journal :
- BMC Research Notes
- Accession number :
- edsair.doi.dedup.....2d5d238463d5833b60f058a44ff7f208