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
Lab. of Medical Genomics, International Research Center, A.C.Camargo Cancer Center, Rua Taguá 440, 1st Floor, São Paulo, SP, 01508-010, Brazil.
Laboratory of Computational Biology and Bioinformatics, International Research Center, A.C.Camargo Cancer Center, Rua Taguá 440, 1st Floor, São Paulo, SP, 01508-010, Brazil.
BMC Res Notes. 2017 Dec 12;10(1):735. doi: 10.1186/s13104-017-3072-0.
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.
要理解复杂的多因素疾病，需要为大量受影响个体提供各种数据。在本数据说明中，我们提供了一组不相关的多发性硬化症（MS）患者及其未患病的一级亲属的全外显子组测序数据。这些数据可能有助于识别基因组改变，包括单核苷酸多态性、新生变异和结构基因组变异，如可能影响该疾病的拷贝数改变。
该数据集包含28名巴西受试者的全外显子组，这些受试者分为8个不同的家庭，包括4个完整的三联体（母亲-患者-父亲）以及另外4个完整的三联体，每个三联体增加了一名未患病的兄弟姐妹。我们总共展示了8名被诊断为复发缓解型多发性硬化症患者的全外显子组数据。诊断由经验丰富的神经科医生做出，所有纳入的患者都至少有5年的随访记录且接受了特定的MS治疗。外显子组是在使用生物素化探针捕获外显子后，从白细胞衍生的DNA中进行测序的，测序平台为Ion Proton。对于每个外显子组，我们平均生成了6610万个高质量的比对读数，平均长度约为160nt。平均而言，90%的外显子组垂直覆盖率达到了20倍以上。
