Abstract Background The Critical Assessment of Genome Interpretation (CAGI) aims to
advance the state-of-the-art for computational prediction of genetic variant impact …

Estimating the effects of variants found in disease driver genes opens the door to
personalized therapeutic opportunities. Clinical associations and laboratory experiments …

The assessment of variant effect predictor (VEP) performance is fraught with biases
introduced by benchmarking against clinical observations. In this study, building on our …

PURPOSE Venous thromboembolism (VTE) is a leading cause of death among patients with
cancer. The Khorana score was developed for assessing the risk of VTE in outpatients with …

Abstract Interpretation of genomic variation plays an essential role in the analysis of cancer
and monogenic disease, and increasingly also in complex trait disease, with applications …

Many computational approaches estimate the effect of coding variants, but their predictions
often disagree with each other. These contradictions confound users and raise questions …

The use of a back-propagation artificial neural network (ANN) to systematize the reliability of
a Deep Vein Thrombosis (DVT) diagnostic by using Wells' criteria is introduced herein. In …

Background: The Critical Assessment of Genome Interpretation (CAGI) aims to advance the
state-of-the-art for computational prediction of genetic variant impact, particularly where …

Abstract Deep Vein Thrombosis (DVT) is the result of blood clots in the veins of the body
especially in the legs. The most catastrophic importance of DVT is pulmonary embolism …

Predicting the effect of a mutated gene before the onset of symptoms of genetic diseases
would greatly facilitate diagnosis and potentiate early intervention. There have been myriad …