• General Information
• HiSeq X data (Polaris 1)
• Related datasets
  • Platinum Genomes
    • HiSeq 2000
    • HiSeq X
• Footnotes
• References

All samples were obtained from the Coriell Institute unless otherwise specified. Coriell samples used for this project were obtained from several different repositories:

• CEPH Utah (CEU), Personal Genomes Project, and most GeT-RM samples are made available through a collaboration with the National Institute of General Medical Sciences (NIGMS) Human Genetic Cell Repository.
• Non-CEU populations used for the HapMap and 1000 Genomes Project are made available through the National Human Genome Research Institute (NHGRI) Sample Repository for Human Genetic Research.
• A small set of GeT-RM samples are made available through a collaboration with the Centers for Disease Control and Prevention (CDC) Repository

More information about the superpopulations and populations sequenced in this project can be found in the population key.

Data with unrestricted access is typically available through the European Nucleotide Archive (ENA) and BaseSpace. Data with restricted access is available through the European Genome-phenome Archive (EGA), where access is controlled by a Data Access Committee. No variants are ever reported in Polaris for restricted access samples.

Data with unrestricted access

• Diversity Cohort
• PGx Cohort
• Kids Cohort

Data with restricted access

• Repeat expansion Cohort [1]
• Project MinE ALS Cohort [1] ^{i, iii}
• Venezuelan Huntington's disease Cohort [1] ^{ii, iii}

The Platinum Genomes is used for pedigree consistency checking in Polaris. Data is accessible through the links below for various platforms.

There are 3 sets of individuals as part of the pedigree:

• Unrestricted access
  • Parents: NA1277 / NA12878
  • Grandparents: NA12889 - NA12892
• Restricted access — available through dbGaP / EGA
  • Children: NA12879 - NA12888, NA12893

• Parents & grandparents
  • ENA
  • BaseSpace
• Children
  • dbGaP

• Parents & grandparents
  • ENA — pending
  • BaseSpace — pending
• Children
  • dbGaP — pending

ⁱ Multiple platforms used in this project

ⁱⁱ Multiple sample prep methods used in this project

ⁱⁱⁱ Limited data available from cohort samples

1. Dolzhenko, et al (2017) Detection of long repeat expansions from PCR-free whole-genome sequence data. Genome Res, Early Access. doi:10.1101/gr.225672.117