SNP@Ethnos: a database of ethnically variant single-nucleotide polymorphisms
Jungsun Park1,*, Sohyun Hwang1,2, Yong Seok Lee1,3, Sang-Cheol Kim4 and Doheon Lee2
Inherited genetic variation plays a critical but largely uncharacterized
role in human differentiation. The completion of the International
HapMap Project makes it possible to identify loci that may cause
human differentiation. We have devised an approach to find such
ethnically variant single-nucleotide polymorphisms (ESNPs) from
the genotype profile of the populations included in the International
HapMap database. We selected ESNPs using the nearest shrunken
centroid method (NSCM), and performed multiple tests for genetic
heterogeneity and frequency spectrum on genes having ESNPs.
The function and disease association of the selected SNPs were
also annotated. This resulted in the identification of 100 736
SNPs that appeared uniquely in each ethnic group. Of these SNPs,
1009 were within disease-associated genes, and 85 were predicted
as damaging using the Sorting Intolerant From Tolerant system.
This study resulted in the creation of the SNP@Ethnos database,
which is designed to make this type of detailed genetic variation
approach available to a wider range of researchers. SNP@Ethnos
is a public database of ESNPs with annotation information that
currently contains 100 736 ESNPs from 10 138 genes, and can
be accessed at
http://variome.net and
http://bioportal.net/ or directly at
http://bioportal.kobic.re.kr/SNPatETHNIC/.
http://nar.oxfordjournals.org/cgi/content/full/35/suppl_1/D711정선이와 함께 co-first author인데, 위치를 양보했더니 양력 쓸 때마다 조금 신경쓰인다. -.-a
첫번째 논문이 algorithm 논문이 아니라 DB 논문이라 좀 아쉽기는 했지만, 논문의 기본을 알게 해준 고마운 논문이다.