The combined research efforts in our field over the last hundred years made that we now recognise dozens of plasma proteins with a function in the clotting system and a set of platelet components that is of the same order. Progress in molecular biology is such as to have identified some one hundred genes that may influence haemostasis and thrombosis and a new one comes about every month. Nevert...

The term “phenotype,” first coined by the Danish botanist Wilhelm Johannsen in 1909, is defined as “the observable characteristics of an individual resulting from the interaction of its genotype with the environment.” The success in mapping complex disease genes and in identifying genotype and environment interactions depends on how well the phenotype is defined. Complex diseases such as sarcoi...

Live cell imaging has improved our ability to measure phenotypic heterogeneity. However, bottlenecks in imaging and image processing often make it difficult to differentiate interesting biological behavior from technical artifact. Thus there is a need for new methods that improve data quality without sacrificing throughput. Here we present a 3-step workflow to improve dynamic phenotype measurem...

OBJECTIVE Analysis of narrative (text) data from electronic health records (EHRs) can improve population-scale phenotyping for clinical and genetic research. Currently, selection of text features for phenotyping algorithms is slow and laborious, requiring extensive and iterative involvement by domain experts. This paper introduces a method to develop phenotyping algorithms in an unbiased manner...

Everyone thinks they know what “cardiac hypertrophy” is: a reactive increase in cardiac size/myocardial mass in response to hemodynamic stress that, in humans, predisposes to early death.1 Yet, the term “hypertrophy” has become one of the most misused and inaccurate terms in the cardiovascular basic science literature because of its nonspecificity and, as typically used, lack of mechanistic imp...

Background Methicillin-resistant Staphylococcus aureus (MRSA) infection is associated with increased morbidity, mortality, and financial burdens. Phenotyping methods are used to classify MRSA as either health care MRSA (HA-MRSA) or community-associated MRSA (CA-MRSA). Recent studies suggested the phenotyping methods are not always reliable, based on a lack of concordance with genotyping results...

To determine whether NAT2 genotyping could be used interchangeably with caffeine phenotyping in assessing N-acetyltransferase activity in epidemiological studies, sources of interindividual variability in N-acetyltransferase activity were assessed among 90 subjects of various ethnic backgrounds in Hawaii. Forty-three subjects were patients with in situ colorectal cancer treated by polypectomy, ...

BACKGROUND AND AIMS Advanced phenotyping, i.e. the application of automated, high-throughput methods to characterize plant architecture and performance, has the potential to accelerate breeding progress but is far from being routinely used in current breeding approaches. In forage and turf improvement programmes, in particular, where breeding populations and cultivars are characterized by high ...