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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...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2017
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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. |
format | Online Article Text |
id | pubmed-5727932 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
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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