Autor: Paras Garg, Bharati Jadhav, Mariya Shadrina, Alejandro Martin-Trujillo, Andrew J. Sharp
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A phenome-wide association study of CNVs genotyped from genome sequencing read depth in the UK Biobank
We developed an accurate and highly scalable method for genotyping copy-number variants from sequencing data using read depth. Applying this to the UK Biobank, we performed phenome-wide association studies of >13,000 traits, identifying 501 CNVs associ…
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A phenome-wide association study of CNVs genotyped from genome sequencing read depth in the UK Biobank
We developed an accurate and highly scalable method for genotyping copy-number variants from sequencing data using read depth. Applying this to the UK Biobank, we performed phenome-wide association studies of >13,000 traits, identifying 501 CNVs associ…