Table 1a.
Technologies applied to the dense Swedish pedigree
Method | Sample | Technology and genetic variation assessed |
---|---|---|
Karyotyping | N = 9 (7 BIP1, 2 SCZ) | Standard Giemsa banding; large, “microscopic” structural variants |
Pedigree linkage analysis | N = 378 (152 BIP, SCZ, or SAD; 226 unaffected relatives) | 472 short tandem repeat markers; regions shared IBD |
SNP genotyping | N = 418 (81 BIP1, 67 BIP2, 22 BIP-NOS, 18 SCZ, 29 SAD; 201 controls | Illumina OmniExpress SNPs, CNVs |
Whole exome sequencing | N = 26 (12 BIP1, 13 BIP2, 1 SAD) | Agilent SureSelect, Illumina HiSeq; exonic SNVs, indels |
Whole genome sequencing | N = 10 BIP1 | Illumina X Ten; SNVs, indels, structural variants, trinucleotide repeats |