6 papers · ranked by Valyu relevance
Yonatan Amzaleg, Kevin J. McDonnell, Gregory E. Idos, Christina Mathai + 4 more
Variants of uncertain significance (VUS) in mismatch repair (MMR) genes represent a persistent bottleneck in germline interpretation for Lynch syndrome, creating a critical opportunity to leverage tumor biology to refine pathogenicity assessment. Although tumor features such as microsatellite instability (MSI) and…
Paul B. Conn, Irina S. Trukhanova, Peter L. Boveng, Vladimir Chernook + 1 more
In the springs of 2012-2013, Russian Federation scientists conducted aerial surveys of ice-associated seals (including bearded, ribbon, ringed, and spotted seals) in the Sea of Okhotsk and in Russian waters of the western Bering Sea. These instrument-based surveys used a combination of thermal imaging and digital…
Yi Ren, Zimei Chen, Hayden Deans, Ying Nian Wu + 1 more
Extensive studies suggest the brain performs Bayesian inference to infer the latent world states. It is a fundamental neuroscience question that how canonical recurrent neural circuits in the brain implement Bayesian inference. Many existing theoretical studies focused on how the recurrent circuits compute the…
Peter Gill, Helen Johannessen, Christine Børsum, Ane Elida Fonneløp + 1 more
DNA findings on clothing are often evaluated at sub-source level to address whether a person contributed DNA to a sample. In many cases, however, the disputed issue is not whose DNA is present, but how the DNA was transferred. This paper applies the HaloGen framework to evaluate DNA findings on stockings under…
Linsui Deng, Kejun He, Xianyang Zhang
Mendelian randomization (MR) has been widely used to infer causal relationships between exposures and outcomes in epidemiological studies. However, classical MR assumptions can be violated when genetic variants are associated with outcomes through pathways other than the exposure, leading to uncorrelated and/or…
John Tower
Biological information is generally thought to be subject to selection for faithful maintenance. However, accurate preservation is often combined with regulated mechanisms that generate state change. Selectively advantageous instability (SAI) is modeled here as instability that is favored because useful alternatives…