Fig 1.
Square shape = male, circle shape = female, black fill = affected, white fill = unaffected,? = affectation status unknown, arrow = proband, HCS = Illumina HumanCytoSNP-12v2, HCE/1-0 = Illumina HumanCoreExome-12v1-0_B. Numbers underneath each symbol are individual IDs. Boxes around an ID identify individuals with SNP array data. Filled boxes indicate IDs that also have whole exome sequence data.
Fig 2.
Square shape = male, circle shape = female, black fill = affected, white fill = unaffected,? = affectation status unknown, arrow = proband, HCE/1-1 = Illumina HumanCoreExome-12v1-1_B. Numbers underneath each symbol are individual IDs. Boxes around an ID identify individuals with SNP array data. Filled boxes indicate IDs that also have whole exome sequence data.
Table 1.
Regions of interest with LOD > 1 in both families.
Fig 3.
Solid black line = Family A with both grandparents coded as affectation unknown; dashed black line = Family A with grandfather coded as affected; solid gray line = Family B.
Fig 4.
Solid black line = Family A with both grandparents coded as affectation unknown; dashed black line = Family A with grandmother coded as affected; solid gray line = Family B.
Table 2.
Exome variants in the regions of interest based on linkage analysis results in 95%CI regions and regions with strongest evidence.
Table 3.
Family A LOD scores from single-marker analysis for variants with LOD > 1.
See S3 Table for all tested markers.
Table 4.
Number of risk alleles in Family A members.
Table 5.
Number of risk alleles in Family B members.