copy number analysis
Illumina's Dragen Outperforms Broad GATK, Google DeepVariant in Variant Analysis Benchmarking Study
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Illumina's latest Dragen pipeline brings pangenome-based variant analysis to the masses, though the change will be invisible to most users.
Ribosomal DNA Copy Number Levels Linked to Kidney Function, Inflammation in UK Biobank
Researchers dug into whole-genome sequence data for UK Biobank participants, finding ties between ribosomal DNA copy number and traits such as kidney function.
At the American College of Medical Genetics and Genomics annual meeting, members of two working groups provided an early look at new versions of the existing standards.
Ovarian Cancer Detected Early With DNA From Pap Smear in Proof-of-Principle Study
Researchers developed an early ovarian cancer test based on DNA from Pap smears from women who went on to develop high-grade serous ovarian cancer.
Schizophrenia Ties to Mosaic CNVs Suggest Early Developmental Origins of the Disease
Analyzing case-control genotyping profiles, researchers saw somatic copy number changes recurring in two genes in individuals with schizophrenia.