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  • 标题:Reference exome data for a Northern Brazilian population
  • 本地全文:下载
  • 作者:Alexia L. Weeks ; Richard W. Francis ; Joao I. C. F. Neri
  • 期刊名称:Scientific Data
  • 电子版ISSN:2052-4463
  • 出版年度:2020
  • 卷号:7
  • 期号:1
  • 页码:1-5
  • DOI:10.1038/s41597-020-00703-y
  • 语种:English
  • 出版社:Nature Publishing Group
  • 摘要:Exome sequencing is widely used in the diagnosis of rare genetic diseases and provides useful variant data for analysis of complex diseases. There is not always adequate population-specific reference data to assist in assigning a diagnostic variant to a specific clinical condition. Here we provide a catalogue of variants called after sequencing the exomes of 45 babies from Rio Grande do Nord in Brazil. Sequence data were processed using an 鈥榠ntersect-then-combine鈥?(ITC) approach, using GATK and SAMtools to call variants. A total of 612,761 variants were identified in at least one individual in this Brazilian Cohort, including 559,448 single nucleotide variants (SNVs) and 53,313 insertion/deletions. Of these, 58,111 overlapped with nonsynonymous (nsSNVs) or splice site (ssSNVs) SNVs in dbNSFP. As an aid to clinical diagnosis of rare diseases, we used the American College of Medicine Genetics and Genomics (ACMG) guidelines to assign pathogenic/likely pathogenic status to 185 (0.32%) of the 58,111 nsSNVs and ssSNVs. Our data set provides a useful reference point for diagnosis of rare diseases in Brazil. (169 words).
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