Frequently Asked Questions (FAQ)

• How many DNA samples have been sequenced for this database?

  In total, 800 DNA samples have been sequenced.

• What are the ethnic groups represented in this database?

  Eight different ethnic groups are represented including Iranian Arabs, Azeris, Balochs, Kurds, Lurs, Persians, Persian Gulf Islanders and Turkmen, each with 100 healthy individuals.

• What regions of the human genome were sequenced in these samples?

  Coding exons of the human genome were sequenced using the Agilent SureSelect V6 target enrichment kit.

• What platform was used for sequencing?

  Illumina sequencers were used for sequencing of all the samples.

• What is the sequencing depth of coverage for these samples?

  The mean depth of coverage was 84.8x based on CCDS_Release15_Nov2013. On average, 93.6% of the coding regions of this release of CCDS were covered at 20x depth of coverage or more.

• Which software packages were used to analyze the sequence data?

  Combination of BWA, Picard and GATK V used for data analysis based on GATK Best Practices.

• What genome build is the Iranome data based on?

  All data are based on Human_g1k_v37_decoy reference genome.

• What version of RefSeq was used for annotating variants?

  RefSeq Genes 105 V2.

• What version of dbSNP was used to annotate variants?

  dbSNP 149.

• What versions of dbNSFP was used for annotation?

  dbNSFP V3.0.

• What versions of dbscSNV was used for annotation?

  dbscSNV V1.1.

• What is included in LoF?

  Frameshift insertions and deletions, nonsense, initial codon, splice acceptor, and splice donor variants caused by single nucleotide changes.