Table 2 Overview of the sequencing studies
From: The impact of rare and low-frequency genetic variants in common disease
Cohort | Number of samples | Type (WGS or WES) | Coverage | Population | Disease/traits | Source |
|---|---|---|---|---|---|---|
UK10K | 3715 | WGS | 6.5× | UK | Across diseases | |
Sardinia | 3445 | WGS | 4× | Sardinian | Lipids | |
IBD | 4478 | WGS | 4 × + 2× | UK | Inflammatory bowel disease | |
GoT2D | 2710 | WGS/WES | 4×/Exome | UK | Type 2 diabetes | |
BRIDGES | 2487 | WGS | 6–8× (12×) | European | Breast cancer | |
1000 Genomes | 2495 | WGS/WES | 4×/Exome | Multiple populations | – | |
GoNL | 748 | WGS | 12× | Dutch | Cardiovascular disease | |
AMD | 3305 | WGS | 4× | European, Asian | Age-related macular degeneration | |
HUNT | 1023 | WGS | 4× | Norwegian | Across diseases | |
SiSu + Kuusamo | 1918 | WGS | 4× | Finnish | Cardiovascular disease | |
INGI-FVG | 250 | WGS | 4–10× | Italian | Across diseases | |
INGI-Val Borbera | 225 | WGS | 6× | Italian | Across diseases | |
INGI-Carlantino | 94 | WGS | 4× | Italian | Across diseases | |
MCTFR | 1325 | WGS | 10× | – | Developmental disease | |
HELIC | 247 | WGS | 4× (1×) | Greek isolates | Across diseases | |
ORCADES | 398 | WGS | 4× | Orkney islands | Across diseases | |
InCHIANTI | 676 | WGS | 7× | Tuscan | Aging | |
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 | |
Project MinE | 935 | WGS | 45× | Across populations | Amyotrophic lateral sclerosis | |
NEPTUNE | 403 | WGS | 4× | Across populations | Nephrotic syndrome | |
deCODE | 2636 | WGS | 20× | Icelandic | Across diseases | |
CHARGE | 962 | WGS | 6× | Across populations | Cardiovascular disease, ageing | |
ESP of NHLBI | 6500 | WES | Up to 111× | Across populations | Across diseases | |
T2D-GENES | 12,940 | WES | 82× | Across populations | Type 2 diabetes |