Dataset Information

PAGE: Global Reference Panel

ABSTRACT:

Stanford contributed samples to the PAGE study that can act as a population reference dataset across the globe. Therefore this dataset includes reference individuals, without phenotypes, chosen to help infer ancestry that will help us understand the diverse samples available in PAGE. The complete dataset comprises individuals of European, African, Asian, Oceanian, and Native American descent, from a total of over 50 populations. A subset of these individuals from Puno, Peru and Easter Island (Rapa Nui), Chile, are included in the PAGE samples that were whole genome sequenced in 2015. Additional details are available in the Study Acknowledgments.

The Global Reference Panel comprises 6 sample sets:

A population sample of Andean individuals primarily of Quechuan/Aymaran ancestry from Puno, Peru
A population sample of Easter Island (Rapa Nui), Chile
Individuals of indigenous origin from Oaxaca, Mexico
Individuals of indigenous origin from Honduras
Individuals of indigenous origin from Colombia
Individuals of indigenous origin from the Nama and Khomani KhoeSan populations of the Northern Cape, South Africa

In addition, we genotyped publicly available samples that will be hosted on the Bustamante lab website (https://bustamantelab.stanford.edu/). These comprise large public datasets to provide an open reference dataset for the world:

The additional related individuals from the Americas in the Human Genome Diversity Panel (H952) plus all additional samples from the Americas
A subset of the unrelated individuals from the Maasai in Kinyawa, Kenya (MKK) dataset from the International Hapmap Project hosted at Coriell

Additional samples will be available for restricted use with a data access agreement with the Bustamante Lab.

This study is part of the Population Architecture using Genomics and Epidemiology (PAGE) study (phs000356).

PROVIDER: phs001033 | dbGaP |

SECONDARY ACCESSION(S): PRJNA302342PRJNA302341

REPOSITORIES: dbGaP

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Project description:PAGE II (2013-2017) seeks to expand understanding gained during PAGE I and similar studies of how ancestry-specific differences in allele frequencies and LD may explain differences in risks of common traits and conditions. Recent studies have identified rare genetic variants that are likely to contribute to common diseases and traits and observed that rare variants likely to be functional, such as those in coding and regulatory regions, tend to be population-specific. PAGE II has genotyped over 50,000 samples using MEGA, an Illumina high density custom exomechip array. The MEGA data is being imputed in PAGE to the 1000 Genomes panel. PAGE also sequenced 1,000 samples representative of 21 populations from the Americas. PAGE has harmonized phenotype data for ~300 trait variables. These datasets will be analyzed to continue emphasis on characterizing population-level disease risks in non-European-descent individuals. Cohorts in PAGE II are: CALiCo (Causal Variants Across the Life Course, a consortium of ARIC, CARDIA, HCHS/SOL, Strong Heart Studies), ISMMS (Mount Sinai BioMe Biobank), MEC (Multiethnic Cohort), WHI (Women's Health Initiative), and Stanford University (PAGE Global Reference Panel). Genotyping services were provided by the Center for Inherited Disease Research (CIDR) and sequence data were provided by the McDonnell Genome Institute at Washington University School of Medicine. PAGE I (2008-2013): The first phase of PAGE examined putative causal genetic variants across approximately 100,000 African Americans, Asian Americans, American Indians, European Americans, Hispanic Americans, and Native Hawaiians from four groups representing nine large U.S.-based cohorts. Two genotyping approaches were employed - targeted genotyping of selected SNPs identified in genome-wide association studies of common disease, and a large-scale effort focused on the Metabochip array, which facilitated trans-ethnic fine mapping of several diseases of public health importance. Cohorts in PAGE I were: CALiCo (Causal Variants Across the Life Course, a consortium of ARIC, CARDIA, CHS, HCHS/SOL, Strong Heart Cohort Study, Strong Heart Family Study), EAGLE (Epidemiologic Architecture for Genes Linked to Environment, based on 3 National Health and Nutrition Examination Surveys (NHANES)), MEC (Multiethnic Cohort) and WHI (Women's Health Initiative). Logistical and scientific support is provided by the PAGE Coordinating Center and the NHGRI Division of Genomic Medicine. PAGE II is funded by the NHGRI and the NIMHD. To access PAGE studies currently available in dbGaP, please click on the links below.Please note that some PAGE studies belong to larger cohorts and have been included as PAGE substudies. For those studies, there is an additional link to the parent study. <ul> <li><a href="study.cgi?study_id=phs000223">phs000223</a> PAGE-ARIC and <a href="study.cgi?study_id=phs000280">phs000280</a> ARIC Cohort</li> <li><a href="study.cgi?study_id=phs000236">phs000236</a> PAGE-CARDIA and <a href="study.cgi?study_id=phs000285">phs000285</a> CARDIA Cohort</li> <li><a href="study.cgi?study_id=phs000301">phs000301</a> PAGE-CHS and <a href="study.cgi?study_id=phs000287">phs000287</a> CHS Cohort</li> <li><a href="study.cgi?study_id=phs000559">phs000559</a> PAGE-EAGLE-BioVu</li> <li><a href="study.cgi?study_id=phs000208">phs000208</a> PAGE-EAGLE-NHANES</li> <li><a href="study.cgi?study_id=phs000555">phs000555</a> PAGE-HCHS/SOL and <a href="study.cgi?study_id=phs000810">phs000810</a> HCHS/SOL Cohort</li> <li><a href="study.cgi?study_id=phs000220">phs000220</a> PAGE-MEC</li> <li><a href="study.cgi?study_id=phs000580">phs000580</a> PAGE-SHS and SHFS</li> <li><a href="study.cgi?study_id=phs001033">phs001033</a> PAGE Global Reference Panel</li> <li><a href="study.cgi?study_id=phs000227">phs000227</a> PAGE-WHI and <a href="study.cgi?study_id=phs000200">phs000200</a> WHI Cohort</li> </ul>

Dataset Information

PAGE: Global Reference Panel

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