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

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 unaff...

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Autores principales: Garcia-Rosa, Sheila, de Amorim, Maria Galli, Valieris, Renan, Marques, Vanessa Daccach, Lorenzi, Julio Cesar Cetrulo, Toller, Vania Balardin, do Olival, Guilherme Sciascia, da Silva Júnior, Wilson Araújo, da Silva, Israel Tojal, Barreira, Amilton Antunes, Nunes, Diana Noronha, Dias-Neto, Emmanuel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5727932/
https://www.ncbi.nlm.nih.gov/pubmed/29233175
http://dx.doi.org/10.1186/s13104-017-3072-0
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author Garcia-Rosa, Sheila
de Amorim, Maria Galli
Valieris, Renan
Marques, Vanessa Daccach
Lorenzi, Julio Cesar Cetrulo
Toller, Vania Balardin
do Olival, Guilherme Sciascia
da Silva Júnior, Wilson Araújo
da Silva, Israel Tojal
Barreira, Amilton Antunes
Nunes, Diana Noronha
Dias-Neto, Emmanuel
author_facet Garcia-Rosa, Sheila
de Amorim, Maria Galli
Valieris, Renan
Marques, Vanessa Daccach
Lorenzi, Julio Cesar Cetrulo
Toller, Vania Balardin
do Olival, Guilherme Sciascia
da Silva Júnior, Wilson Araújo
da Silva, Israel Tojal
Barreira, Amilton Antunes
Nunes, Diana Noronha
Dias-Neto, Emmanuel
author_sort Garcia-Rosa, Sheila
collection PubMed
description 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.
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spelling pubmed-57279322017-12-18 Exome sequencing of multiple-sclerosis patients and their unaffected first-degree relatives Garcia-Rosa, Sheila de Amorim, Maria Galli Valieris, Renan Marques, Vanessa Daccach Lorenzi, Julio Cesar Cetrulo Toller, Vania Balardin do Olival, Guilherme Sciascia da Silva Júnior, Wilson Araújo da Silva, Israel Tojal Barreira, Amilton Antunes Nunes, Diana Noronha Dias-Neto, Emmanuel BMC Res Notes Data Note 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. BioMed Central 2017-12-12 /pmc/articles/PMC5727932/ /pubmed/29233175 http://dx.doi.org/10.1186/s13104-017-3072-0 Text en © The Author(s) 2017 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Data Note
Garcia-Rosa, Sheila
de Amorim, Maria Galli
Valieris, Renan
Marques, Vanessa Daccach
Lorenzi, Julio Cesar Cetrulo
Toller, Vania Balardin
do Olival, Guilherme Sciascia
da Silva Júnior, Wilson Araújo
da Silva, Israel Tojal
Barreira, Amilton Antunes
Nunes, Diana Noronha
Dias-Neto, Emmanuel
Exome sequencing of multiple-sclerosis patients and their unaffected first-degree relatives
title Exome sequencing of multiple-sclerosis patients and their unaffected first-degree relatives
title_full Exome sequencing of multiple-sclerosis patients and their unaffected first-degree relatives
title_fullStr Exome sequencing of multiple-sclerosis patients and their unaffected first-degree relatives
title_full_unstemmed Exome sequencing of multiple-sclerosis patients and their unaffected first-degree relatives
title_short Exome sequencing of multiple-sclerosis patients and their unaffected first-degree relatives
title_sort exome sequencing of multiple-sclerosis patients and their unaffected first-degree relatives
topic Data Note
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5727932/
https://www.ncbi.nlm.nih.gov/pubmed/29233175
http://dx.doi.org/10.1186/s13104-017-3072-0
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