Roslin Bioinformatics - Genotype Checker

Demonstration Data

Two demonstration datasets are provided. The first trivial example can be used for familiarization with the application. A single erroneously typed genotype for one marker causes two reported errors. Masking the correct single genotype corrects the data. (Hint: 'bob')

The second larger dataset is real anonymized data for a pedigree of 2469 individuals over 3 generations, genotyped for 18 Markers. Errors were reported for 17 of these markers, involving 391 different individuals, for 427 of the 41364 recorded genotypes. Two markers are clearly more problematic, reporting 204 and 166 inconsistent genotypes, indicative of a problem with those marker assays. Most individuals report 0 or rarely 1 inconsistent genotypes, whilst a few report 2 or 3 errors and a single individual reports 7 inconsistencies, possibly indicating a misidentified individual, sample or incorrect pedigree information for this individual.

 

demo1Pedigree Trivial small pedigree of 15 individuals (4 generations)
demo1Genotype 42 asserted genotypes for 3 markers
demo2Pedigree Larger pedigree of 2469 individuals (3 generations)
demo2Genotype 41364 asserted genotypes for 18 markers