What are the biggest sets of individual-level sequence-based variant data?

Question

[Jeremy Leipzig]

I'm not looking gnomAD or other population-level aggregations, but studies in dbGaP or elsewhere that have large numbers of individuals - can be human, model species, plants, etc. Should be exome or whole genome sequencing. Please list the number of subjects.

Answer 1

[d-cameron]

There are quite a few. For example:

• ~10k: The Hartwig Medical Foundation (https://www.hartwigmedicalfoundation.nl/) is getting close to 10k deeply sequenced WGS tumour/normal pairs.
  • ~100k: The 100,000 Genomes Project (https://www.genomicsengland.co.uk/initiatives/100000-genomes-project) has 100k samples and Genomics England continues to sequence.
• ~1M: All of Us (https://allofus.nih.gov/) is ongoing and aims to sequence 1M people.

Answer 2

[Jeremy Leipzig]

NYGC 1kg 30x: 3202 wgs

PCGC phs000571.v6.p2: 9517 exomes