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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 iUPI-M | ![]() | Paternal Isodisomy iUPI-P |
![]() | Maternal Heterodisomy hUPI-M | ![]() | Paternal Heterodisomy hUPI-P |
![]() | 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 |
| Return | Return to the SNPtrio homepage |
| Return | Return to our lab's homepage |
Please send questions or comments to ting@kennedykrieger.org or pevsner@kennedykrieger.org.
Last updated: January 29, 2007.