Fattahi et al., Human Mutation (2019), doi:10.1002/humu.23880: whole-exome sequencing of 800 individuals from eight major Iranian ethnic groups — Arabs, Azeris, Baluchs, Kurds, Lurs, Persians, Persian Gulf Islanders, and Turkmen — 100 healthy people each. The paper identified 1,575,702 variants, of which 308,311 were novel (19.6%). It also reports a higher frequency, in this population, for 37,384 novel or known rare variants, which the authors say can improve molecular diagnosis. Those are the numbers on the paper. “Over 1.5 million including more than 38,000 novel” mixes the 1.57 million total with the 37,384 higher-frequency figure and understates novel variants by an order of magnitude. Use the paper.
iranome.com/about: co-principal investigators at the Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, and the Dalla Lana School of Public Health / Women’s College Research Institute, University of Toronto. First phase: those 800 people in eight groups. Second phase: 400 more from Gilaki, Mazani, Sistani, and Zoroastrian groups, for about 1,200 people across twelve groups. The FAQ currently says 1,202 DNA samples were sequenced, coding exons with Agilent SureSelect V6, and “Illumina sequencers were used for sequencing of all the samples.” Mean coverage on that FAQ: 84.8×. The Iranome browser uses open-source code first written for the ExAC browser at the Broad Institute, with later modifications. National collaborators listed on the about page are Iranian universities and counseling centers. An international collaborator listed there is the Max Planck Institute, Berlin. Padtan Elm is not on that list.
gnomAD — the Genome Aggregation Database, sometimes typed as “Nomad” in circulating notes — is a separate global catalog. Iranome is useful in part because Middle Eastern alleles are thin in those global sets. That is a population-genetics fact. It is not a finding that Padtan Elm built Iranome.