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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 http://www.uk10k.org/
Sardinia 3445 WGS 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 European, Asian Age-related macular degeneration http://eaglep.case.edu/iamdgc_web/
HUNT 1023 WGS Norwegian Across diseases https://www.ntnu.edu/hunt
SiSu + Kuusamo 1918 WGS 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 Italian Across diseases http://www.netgene.it/ita/ingi.asp
INGI-Carlantino 94 WGS 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 Orkney islands Across diseases http://www.orcades.ed.ac.uk/orcades/
InCHIANTI 676 WGS 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 Across populations Nephrotic syndrome http://www.neptune-study.org/
deCODE 2636 WGS 20× Icelandic Across diseases http://www.decode.com/
CHARGE 962 WGS 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
  1. ESP Exome Sequencing Project, NHLBI National Heart, Lung, and Blood Institute, WES whole-exome sequencing, WGS whole-genome sequencing