Genotyping was performed at the Keck Biotechnology Resource Laboratory at Yale University School of Medicine and at RUCDR Infinite Biologics® at Rutgers University using the Illumina HumanOmni1-Quad or OmniExpressExome BeadChip (Illumina, San Diego, CA). Samples from each pedigree were genotyped on the same platform. Genotype calling and CNV detection were performed as previously described 40 (link) (see Supplementary Methods for detail). A pCNV threshold of <=0.05 was used for initial selection of CNVs. CNV annotation was performed by CNVision, AnnotSV 41 (link), and a custom program for inheritance pattern analysis. CNVs that are smaller than 1,000 base pairs or larger than 2 million base pairs were excluded.
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Genotyping and CNV Detection Protocol
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Corresponding Organization :
Other organizations : Rutgers, The State University of New Jersey, Yale University, Hospital Universitari de Vic, Capital Region of Denmark, University Medical Center Groningen, University of Groningen, University of Iowa, Children's Hospital of Philadelphia, University of Miami, Cincinnati Children's Hospital Medical Center, Kings Health Partners, Evelina London Children's Healthcare, Great Ormond Street Hospital, University College London, Gangnam Severance Hospital, Yonsei University, University of California, San Francisco, University of California San Francisco Medical Center, Hospital Universitario Virgen del Rocío, Instituto de Biomedicina de Sevilla, Universidad de Sevilla, Yulius, University of Lübeck, TU Dresden, Severance Hospital, University of Washington
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Variable analysis
independent variables
- Genotyping platform (Illumina HumanOmni1-Quad or OmniExpressExome BeadChip)
- Genotype calling
- CNV detection
- Samples from each pedigree were genotyped on the same platform
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