Sample Output

SNPtrio searches informative SNPs based on a schema. This page shows typical patterns that are observed in the SNPtrio output. Note that you can view tables that summarize all the events flagged by SNPtrio, including associated probability values.

Abbreviations: iUPD-P, uniparental isodisomy - paternal (plotted brown or green); hUPD-P, uniparental heterodisomy - paternal (plotted brown); BPD, biparental disomy (plotted black); hUPD-M, uniparental heterodisomy - maternal (plotted blue); iUPD-M, uniparental heterodisomy - maternal (colored yellow or blue); MI-S, Mendelian inconsistency - single allele (plotted red); MS-D, Mendelian inconsistency - double alleles (plotted pink).

Sample SNPtrio Plot Patterns. The five tracks (y-axis) are MI-D, MI-S, UPI-M, BPI, UPI-P.

Normal Autosome
(only BPD)
Autozygosity or
Homozygous Deletion
(parental or proband)
Normal Male Chromosome X
(i.e., iUPI-M)
Blue on male chrX
(LOH on mother)
Maternal Isodisomy
Paternal Isodisomy
Maternal Heterodisomy
Paternal Heterodisomy
Maternal LTA Paternal LTA
Related Trio
(male chr20~chrX)
Non-Related Trio
(male chr20~chrX)
Non-Maternal Trio Non-Paternal Trio
Cause Unknown Affy 100K male chrX with one array
correctly labeled and the other array's
labels switched between parents