The causes of PS are unknown, but it has been hypothesized that the syndrome is a result of somatic mutations, which are lethal in the non-mosaic state. 8 A genome-wide scan could reveal genetic ...
Targeting ER-Golgi homeostasis as a therapeutic strategy in lung cancer. Background: In the routine diagnostic of cancers, the monitoring of the transcriptome and the chromosomal abnormalities becomes ...
BOSTON, Nov. 1, 2012 /PRNewswire/ -- Cartagenia, the world leader in providing genetic labs and clinicians software-based workflow support for variant assessment, lab reporting, and integration of ...
FRAMINGHAM, Mass.--(BUSINESS WIRE)--Variantyx, a leader in genomic precision medicine, today announced the launch of its IriSight™ CNV Analysis - a whole genome-based test for the detection of ...
Oxford Gene Technology (OGT), The Molecular Genetics Company, held an exclusive workshop exploring the power of exon-focused microarrays in enhancing genetic syndrome research at the recent European ...
As a CSP, Macrogen will process gDNA samples for CGH/CNV using the complete NimbleGen array CGH workflow which includes the high-resolution NimbleGen MS 200 Microarray Scanner. Due to the company’s ...
Numerous studies have shown that homologous recombination deficiency (HRD) is a genome-wide biomarker present in high grade ovarian and breast cancers. A cancer therapeutic class, PARP inhibitors, ...
Anomalies detected with ultrasound in fetuses with normal karyotypes may be associated with unusual copy number variants (CNVs), a secondary analysis shows. Jennifer C. Donnelly, MD, from the ...
Copy number variation (CNV) assessment is a critical component of precision medicine in almost all cancer types. For instance, copy number gain is a well described drug resistance mechanism to ...