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Humanomniexpress v1

Manufactured by Illumina

The HumanOmniExpress v1 is a high-throughput microarray platform designed for genome-wide genotyping. It provides comprehensive coverage of common genetic variations across the human genome. The core function of this product is to enable efficient and accurate analysis of genetic markers for research purposes.

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6 protocols using humanomniexpress v1

1

Allele-Specific Copy Number Analysis

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SNP array analysis was performed on all 17 samples using Beadchip technology from Illumina, but with different chips depending on availability at the time of the analysis (Supplementary Table S3). In particular, two samples were analyzed using Illumina Human660W-Quad chip (655,246 SNPs), six samples using Illumina HumanOmniExpress v1 (730,525 SNPs), and nine samples using Illumina HumanOmni1S (1,185,076 SNPs). In all cases, raw data were processed with Illumina Genome Studio v2009 with the Genotyping module v1.1.9 to extract B-allele frequency (BAF) and log R ratio (LRR) values for each SNP.
SNP array data were analyzed using the R package ASCAT (Van Loo et al, 2010 (link)) to obtain loss-of-heterozygosity (LOH) and allele-specific copy number (CN) profiles from the BAF and LRR values. All samples were analyzed independently and treated as unpaired samples, using the germline genotype prediction functionality from ASCAT. In short, after loading BAF and LRR data, the germline genotype parameters were estimated and the data were segmented using the ASPCF algorithm. Next, ASCAT computed the most likely combination of CN states, total ploidy and percentage of aberrant cells. Circular genomic plots were created using Circos (Krzywinski et al, 2009 (link)).
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2

Genome-wide MHC Genotyping in Japanese Biobank

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Genome-wide genotype data from 174,696 individuals were analyzed for the presence of 55,225 SNPs in the MHC region. The data were obtained from blood DNA samples collected through genome-wide SNP chip analysis using Illumina Human OmniExpress v1, Human OmniExpressExome v1.0, or Human OmniExpressExome v1.2 BeadChips. The data were obtained from the BioBank Japan (BBJ) database (approval number: P0067 and P0078), which is a national project that began in 2003 to collect DNA and clinical information from a total of 200,000 patients with at least one of 47 common diseases, including 12 types of cancer (http://biobankjp.org). The 174,696 subjects included 33,471 cancer cases and 141,225 controls. Principal component analysis of the 55,225 SNPs from the BBJ subjects was performed using 1,000 Genomes Project SNP data from Japanese (n = 91), Chinese (n = 190), European (n = 280), and African populations (n = 550)8 (link). This enabled construction of a study population comprising 138,830 individuals with matched genetic backgrounds, including 31,727 cancer cases and 107,103 noncancer controls (Supplementary Fig. 5 and Supplementary Table 1).
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3

Whole Blood DNA Extraction and Genotyping

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EDTA tubes were used to collect whole blood. Genomic DNA was isolated using Gentra Puregene kits (Qiagen). Genotyping was performed using the HumanOmniExpress V1 (Illumina). Single-nucleotide polymorphisms (SNPs) with a minor allele frequency <1%, locus missingness >10%, or Hardy-Weinberg equilibrium significance <0.000001 were excluded, as were individuals with genotype missingness >10% and an estimation of identity by descent >0.12. We performed genotype imputation in the Michigan Imputation Server (https://imputationserver.sph.umich.edu), using the 1000G phase 1, version 3, and the prephasing algorithm SHAPEIT2.
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4

Genome-wide genotyping of large Japanese biobank

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We used 183,899 subjects in the BBJ project for selection of samples to analyze for this study. Written informed consent was obtained from all the participants. The study was approved by the ethical committees in the Institute of Medical Science, the University of Tokyo and RIKEN Center for Integrative Medical Science. Most of the subjects had already been genotyped using genome-wide genotyping arrays40 (link). In this study, we used genotype data from three different sets using four different arrays, namely, (1) HumanOmniExpressExome v1.0, (2) HumanOmniExpressExome v1.2, and (3) a combination of Illumina HumanOmniExpress v1.0 and Human Exome v1.0 or v1.1 BeadChips. A breakdown of the subjects and arrays is given in Supplementary Table 1.
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5

Genetic Association Study of Sleep-Wake Cycle

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The subjects used in this study were male employees of a wholesale company in Osaka, Japan. Of 466 male subjects invited to participate, 322 took part in a 1-week survey, which included sleep diaries and actigraphy. A total of 310 subjects agreed to have their genomic DNA from blood analyzed, and data from subjects with validated DNA sequencing were used (n = 294). Sleep-wake schedules were obtained by 7-day sleep logs with coincident wrist actigraphy (Actiwatch AW-Light, Mini-Mitter) recorded in 1-min bins as previously described (30 (link)). Genomic DNA was extracted from leukocytes with the QIAamp DNA Blood Mini kit (Qiagen K.K.). Genome-wide genotyping was performed with Illumina HumanOmniExpress v1.0 (Illumina). Fabp7 SNP, rs2279381 data were used in this study.
Genotyping of subjects was confirmed by DNA sequencing (RIKEN Brain Science Institute). Genotyping of FABP7 Thr61Met (rs2279381) was carried out using the TaqMan SNP Genotyping Assays (Applied Biosystems) (assay ID: C__15967661_20) according to the manufacturer’s recommendations. Analysis was performed by ABI 7900HT and SDS v2.4 software (Applied Biosystems). The accuracy of genotype based on sequencing can be seen in our previous work (31 (link)).
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6

Genome-wide genotyping and association analysis

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Genome-wide genotyping was performed with Illumina HumanOmniExpress v1.0 (Illumina) in 946 cases and 1213 controls. Detailed methods of genotyping and quality control are shown in the online supplementary methods and figure S2. Finally, 570 442 SNPs passed filters for 945 cases and 1213 controls.
In total, 123 SNPs passing the significance threshold at p<1.0×10−5 in the GWAS stage were used for subsequent analyses. Among these SNPs, we examined their linkage disequilibrium (LD) and selected 16 SNPs for replication study (see online supplementary methods). These 16 SNPs were then genotyped by an allelic discrimination assay (Custom TaqMan Assay and By-Design, Applied Biosystems) with a LightCycler 480 (Roche Diagnostics).18 After quality control, subsequent statistical analysis was performed with 1048 cases and 1334 controls.
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