Table 2.
Overview of the sequencing studies
| Cohort | Number of samples | Type (WGS or WES) | Coverage | Population | Disease/traits | Source |
|---|---|---|---|---|---|---|
| UK10K | 3715 | WGS | 6.5× | UK | Across diseases | http://www.uk10k.org/ |
| Sardinia | 3445 | WGS | 4× | Sardinian | Lipids | https://sardinia.irp.nia.nih.gov/ |
| IBD | 4478 | WGS | 4 × + 2× | UK | Inflammatory bowel disease | http://www.ibdresearch.co.uk/ |
| GoT2D | 2710 | WGS/WES | 4×/Exome | UK | Type 2 diabetes | www.type2diabetesgenetics.org |
| BRIDGES | 2487 | WGS | 6–8× (12×) | European | Breast cancer | https://bridges-research.eu/ |
| 1000 Genomes | 2495 | WGS/WES | 4×/Exome | Multiple populations | – | http://www.1000genomes.org/ |
| GoNL | 748 | WGS | 12× | Dutch | Cardiovascular disease | http://www.nlgenome.nl/ |
| AMD | 3305 | WGS | 4× | European, Asian | Age-related macular degeneration | http://eaglep.case.edu/iamdgc_web/ |
| HUNT | 1023 | WGS | 4× | Norwegian | Across diseases | https://www.ntnu.edu/hunt |
| SiSu + Kuusamo | 1918 | WGS | 4× | Finnish | Cardiovascular disease | http://www.sisuproject.fi/ |
| INGI-FVG | 250 | WGS | 4–10× | Italian | Across diseases | http://www.netgene.it/ita/ingi.asp |
| INGI-Val Borbera | 225 | WGS | 6× | Italian | Across diseases | http://www.netgene.it/ita/ingi.asp |
| INGI-Carlantino | 94 | WGS | 4× | Italian | Across diseases | http://www.netgene.it/ita/ingi.asp |
| MCTFR | 1325 | WGS | 10× | – | Developmental disease | https://mctfr.psych.umn.edu/ |
| HELIC | 247 | WGS | 4× (1×) | Greek isolates | Across diseases | http://www.helic.org/ |
| ORCADES | 398 | WGS | 4× | Orkney islands | Across diseases | http://www.orcades.ed.ac.uk/orcades/ |
| InCHIANTI | 676 | WGS | 7× | Tuscan | Aging | http://inchiantistudy.net |
| GECCO | 1131 | WGS | 4–6× | Across populations | Colorectal cancer | https://www.fredhutch.org/en/labs/phs/projects/cancerprevention/projects/gecco.html |
| GPC | 697 | WGS | 30× | Dutch | Personality traits | http://www.tweelingenregister.org/GPC/ |
| Project MinE | 935 | WGS | 45× | Across populations | Amyotrophic lateral sclerosis | http://projectmine.com |
| NEPTUNE | 403 | WGS | 4× | Across populations | Nephrotic syndrome | http://www.neptune-study.org/ |
| deCODE | 2636 | WGS | 20× | Icelandic | Across diseases | http://www.decode.com/ |
| CHARGE | 962 | WGS | 6× | Across populations | Cardiovascular disease, ageing | http://www.chargeconsortium.com/ |
| ESP of NHLBI | 6500 | WES | Up to 111× | Across populations | Across diseases | https://esp.gs.washington.edu/drupal/ |
| T2D-GENES | 12,940 | WES | 82× | Across populations | Type 2 diabetes | http://www.type2diabetesgenetics.org/projects/t2dGenes |
ESP Exome Sequencing Project, NHLBI National Heart, Lung, and Blood Institute, WES whole-exome sequencing, WGS whole-genome sequencing