title: Human Chromosome Y and Haplogroups; introducing YDHS Database.
abstract: BACKGROUND
  As the high throughput sequencing efforts generate more biological information, scientists from different disciplines are interpreting the polymorphisms that make us unique. In addition, there is an increasing trend in general public to research their own genealogy, find distant relatives and to know more about their biological background. Commercial vendors are providing analyses of mitochondrial and Y-chromosomal markers for such purposes. Clearly, an easy-to-use free interface to the existing data on the identified variants would be in the interest of general public and professionals less familiar with the field. Here we introduce a novel metadatabase YDHS that aims to provide such an interface for Y-chromosomal DNA (Y-DNA) haplogroups and sequence variants.
  
  
  METHODS
  The database uses ISOGG Y-DNA tree as the source of mutations and haplogroups and by using genomic positions of the mutations the database links them to genes and other biological entities. YDHS contains analysis tools for deeper Y-SNP analysis.
  
  
  RESULTS
  YDHS addresses the shortage of Y-DNA related databases. We have tested our database using a set of different cases from literature ranging from infertility to autism. The database is at http://www.semanticgen.net/ydhs
  
  
  CONCLUSIONS
  Y-chromosomal DNA (Y-DNA) haplogroups and sequence variants have not been in the scientific limelight, excluding certain specialized fields like forensics, mainly because there is not much freely available information or it is scattered in different sources. However, as we have demonstrated Y-SNPs do play a role in various cases on the haplogroup level and it is possible to create a free Y-DNA dedicated bioinformatics resource.
authors.affiliation: Department of Clinical Genetics, Oulu University Hospital, PEDEGO Research Unit, University of Oulu, and Medical Research Center Oulu, Oulu University Hospital and University of Oulu, PO Box 23, FI-90029, Oulu, Finland, timo.tiirikka@student.oulu.fi.
authors.forename: Timo
authors.initials: T
authors.lastname: Tiirikka
authors.forename: Jukka S
authors.initials: JS
authors.lastname: Moilanen