iSNP: An integrated, automatically updated SNP database


Çarkacioǧlu L., Gedikoǧlu C., AYDIN SON Y.

2012 7th International Symposium on Health Informatics and Bioinformatics, HIBIT 2012, Cappadocia, Türkiye, 19 - 22 Nisan 2012, ss.114-117 identifier

  • Yayın Türü: Bildiri / Tam Metin Bildiri
  • Cilt numarası:
  • Doi Numarası: 10.1109/hibit.2012.6209052
  • Basıldığı Şehir: Cappadocia
  • Basıldığı Ülke: Türkiye
  • Sayfa Sayıları: ss.114-117
  • Orta Doğu Teknik Üniversitesi Adresli: Evet

Özet

Single Nucleotide Polymorphisms (SNP) is a DNA sequence variation that occurs when a single nucleotide differs between members of a biological species or paired chromosomes in an individual. Studies on SNP data are important for scientists to shed light on identifying genetic variations underlying complex diseases. While recent advances in high-throughput genotyping technologies are resulting in data accumulation at large scales, the need for collection and service of this data under a standard format and globally normalized and structured metadata that houses the structured SNP data is becoming essential. Here, we present iSNP that is a regularly updated, machine curated database that holds SNP and its associated metadata from publicly available databases under a structured standard format that can be efficiently utilized within different applications. © 2012 IEEE.