Dataset Information

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

ABSTRACT: 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.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.

SUBMITTER: Garcia-Rosa S

PROVIDER: S-EPMC5727932 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature

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

Garcia-Rosa Sheila S de Amorim Maria Galli MG Valieris Renan R Marques Vanessa Daccach VD Lorenzi Julio Cesar Cetrulo JCC Toller Vania Balardin VB do Olival Guilherme Sciascia GS da Silva Júnior Wilson Araújo WA da Silva Israel Tojal IT Barreira Amilton Antunes AA Nunes Diana Noronha DN Dias-Neto Emmanuel E

BMC research notes 20171212 1

<h4>Objectives</h4>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, su ...[more]

PMID: 29233175

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Dataset Information

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

Publications

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

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