Publications by authors named "M R Snijders Blok"
Article Synopsis
- The c.1100delC genetic variant is linked to a higher risk of breast cancer in women, with research focusing on its effects within a Dutch study cohort, Hebon, which initially centered on known breast cancer-related genetic variants.
- The study included 1,802 female participants, revealing that carriers of c.1100delC were diagnosed with breast cancer at younger ages and had specific cancer characteristics compared to non-carriers.
- Future research aims to enhance understanding of breast cancer risk in women who test negative but are from families with c.1100delC, utilizing ongoing data from the Netherlands Cancer Registry.
Background: Nineteen genomic regions have been associated with high-grade serous ovarian cancer (HGSOC). We used data from the Ovarian Cancer Association Consortium (OCAC), Consortium of Investigators of Modifiers of (CIMBA), UK Biobank (UKBB), and FinnGen to identify novel HGSOC susceptibility loci and develop polygenic scores (PGS).
Methods: We analyzed >22 million variants for 398,238 women.
Article Synopsis
- Genetic laboratories currently use diverse workflows to diagnose hereditary and congenital diseases, and this study assesses the potential of genome sequencing (GS) to streamline these processes.
- The researchers tested GS on 1,000 cases with known genetic variants to evaluate its effectiveness compared to existing methods, finding that GS detected 95% of variants across different categories.
- The results suggest that adopting a GS-first approach could replace multiple workflows in around 85% of clinical cases, allowing for more efficient and comprehensive diagnostics for rare genetic diseases.
Modern applications of neural-network-based AI solutions tend to move from datacenter backends to low-power edge devices. Environmental, computational, and power constraints are inevitable consequences of such a shift. Limiting the bit count of neural network parameters proved to be a valid technique for speeding up and increasing efficiency of the inference process.
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