Genome-wide Genotyping of Blood/Saliva Samples

Blood samples were collected from cases, and blood or saliva samples were collected from parents of cases. When blood collection was scheduled in conjunction with a surgical procedure, the sample was collected before any blood transfusion. DNA extraction was performed using standard techniques. Genome-wide microarray genotyping was performed at the CHOP Center for Applied Genomics [14 (link)]. The CHOP samples were genotyped using the Illumina HumanOmni-2.5, Illumina HumanHap550 (v2 or v3), or 610 BeadChip platforms, and the PCGC samples were genotyped on the Illumina HumanOmni-1 or 2.5 platforms.

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Sewda A., Agopian A.J., Goldmuntz E., Hakonarson H., Morrow B.E., Musfee F., Taylor D, & Mitchell L.E. (2020). Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects. PLoS ONE, 15(6), e0234357.

Publication 2020

HumanOmni-2.5 610 BeadChip

Blood Blood transfusion Chop Genome Microarray Parents Saliva Surgical procedure

Corresponding Organization : Albert Einstein College of Medicine

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Variable analysis

independent variables

Tissue sample type (blood or saliva)
Genotyping platform (Illumina HumanOmni-2.5, Illumina HumanHap550 (v2 or v3), 610 BeadChip, Illumina HumanOmni-1 or 2.5)

dependent variables

Genotype data

control variables

Timing of blood sample collection (before any blood transfusion when scheduled in conjunction with a surgical procedure)
DNA extraction technique (standard techniques)

controls

Positive control: Not specified
Negative control: Not specified

Annotations

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