Helia Darabi
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View article: O63: Leveraging global and local genomic data to guide equitable carrier screening: From Genome Aggregation Database (gnomAD) to Qatar Genome
O63: Leveraging global and local genomic data to guide equitable carrier screening: From Genome Aggregation Database (gnomAD) to Qatar Genome Open
View article: Leveraging diverse genomic data to guide equitable carrier screening: Insights from gnomAD v.4.1.0
Leveraging diverse genomic data to guide equitable carrier screening: Insights from gnomAD v.4.1.0 Open
View article: Copy-number variants in the ACMG secondary finding genes: A reporting framework for clinical cytogeneticists
Copy-number variants in the ACMG secondary finding genes: A reporting framework for clinical cytogeneticists Open
This study provides a framework for consistent reporting of CNVs, detected by chromosomal microarray analysis, exome, or genome sequencing, in any of the ACMG SFv3.2 genes. To our knowledge, this is the largest cohort of patients studied f…
View article: Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types.
Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types. Open
UNLABELLED: Breast, ovarian, and prostate cancers are hormone-related and may have a shared genetic basis, but this has not been investigated systematically by genome-wide association (GWA) studies. Meta-analyses combining the largest GWA …