Introduction
High-throughput genomic sequencing methodologies
Disease | Sequencing application | Platform | Study design | Sample size sequenced | Population | Associated genes | Reference |
---|---|---|---|---|---|---|---|
AS | Targeted | Illumina | Case–control | 50 cases and 50 controls; 846 cases and 1,308 controls | Han Chinese/ European |
IL23R
| [8] |
BD | Exome | Illumina | Case–control | 766 cases, 768 controls | Japanese; Turkish | IL23R, TLR4, MEFV | [9] |
Exome | Illumina | Case–control | 32 cases, 59 controls | Korean | KIR3DL3, MTHFR, MICA, KIR2KL4, FCGR3A, ICAM1, IFNAR1, KIR2DL4 | [10] | |
IBD | Exome | Illumina | Case–control | 350 cases, 350 controls | Caucasian | NOD2, IL23R, CARD9, IL18RAP, CUL2, C1orf106, PTPN22, MUC19 | [11] |
Sanger | Applied Biosystems | Case–control | 528 cases, 549 controls | Caucasian |
TNFRSF6B
| [12] | |
CU | Whole genome/Sanger | Illumina/Applied Biosystems | Family | 1 case; 27 cases | Caucasian |
PLCG2
| [13] |
DDH | Whole exome | Illumina | Family | 4 cases | Caucasian |
CX3CR1
| [14] |
FMS | Whole exome | Illumina | Family | 19 cases, 150 trios | Caucasian | ZNF77, KNG1, MMP8, STARD6, C14orf105, FAM81B, C11orf40 | [15] |
Gout | Whole genome | Illumina | Case–control | 457 cases | Caucasian |
ALDH16A1
| [16] |
HUVS | Whole exome/targeted exome | Illumina | Family | 1 case; 3 cases, 9 unaffecteds | Caucasian |
DNASE1L3
| [17] |
OA | Sanger | Applied Biosystems | Case–control | 992 cases, 944 controls | Caucasian |
GDF5
| |
Whole genome | Illumina | Case–control | 623 cases, 69,153 controls | Icelandic |
ALDH1A2
| [20] | |
RA | Targeted | Beckman Coulter | Case–control | 34 cases, 74 controls | Alaska Native |
MHC
| [21] |
Exome | Illumina | Case–control | 500 cases, 650 controls | Caucasian | CD2, IL2RA, IL2RB | [22] | |
Whole exome | Illumina | Case–control | 19 cases | Japanese |
BTNL2
| [23] | |
Whole exome/ targeted exome | Illumina | Consanguineous family/case–control | 4 cases; 1,088 cases, 1,088 controls | Caucasian |
PLB1
| [24] | |
SLE | Targeted | Illumina | Case–control | 74 cases, 100 controls | Caucasian |
UBE2L3
| [25] |
Targeted | Illumina | Case–control | 100 cases, 100 controls | Caucasian | IKBKE, IFIH1 | [26] | |
Targeted | Illumina | Case–control | 218 cases, 157 controls | Caucasian; African-American; Hispanic |
TNIP1
| [27] | |
Targeted | Illumina | Case–control | 7 cases | Caucasian |
TNFAIP3
| [28] | |
Exome | Sanger | Case–control | 191 cases, 96 controls | Caucasian |
FAM167A; BLK
| [29] | |
Whole exome/Sanger | Life Technologies | Family | 1 case; 3 cases, 3 unaffecteds | Caucasian |
PRKCD
| [30] | |
pSS | Targeted | Sanger | Case–control | 19 cases | Caucasian |
TNFAIP3
| [31] |