BACKGROUND: Congenital Myotonic Dystrophy (CDM1) is a rare neuromuscular condition caused by a triplet repeat expansion in the DMPK gene. Despite there being a well-recognized clinical syndrome, there has not been an effort to use a standardized onto...
Methods in molecular biology (Clifton, N.J.)
Jan 1, 2019
C.H. Waddington introduced the epigenetic landscape as a metaphor to represent cellular decision-making during development. Like a population of balls rolling down a rough hillside, developing cells follow specific trajectories (valleys) and eventual...
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing
Jan 1, 2019
Autism spectrum disorder (ASD) is a heritable neurodevelopmental disorder affecting 1 in 59 children. While noncoding genetic variation has been shown to play a major role in many complex disorders, the contribution of these regions to ASD susceptibi...
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing
Jan 1, 2019
Electronic phenotyping is the task of ascertaining whether an individual has a medical condition of interest by analyzing their medical record and is foundational in clinical informatics. Increasingly, electronic phenotyping is performed via supervis...
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing
Jan 1, 2019
Biomedical association studies are increasingly done using clinical concepts, and in particular diagnostic codes from clinical data repositories as phenotypes. Clinical concepts can be represented in a meaningful, vector space using word embedding mo...
Database : the journal of biological databases and curation
Jan 1, 2019
Gene-phenotype associations play an important role in understanding the disease mechanisms which is a requirement for treatment development. A portion of gene-phenotype associations are observed mainly experimentally and made publicly available throu...
Studies in health technology and informatics
Jan 1, 2019
EHR-based, computable phenotypes can be leveraged by healthcare organizations and researchers to improve the cohort identification process. The ability to identify patient cohorts using aspects of care and outcomes based on clinical characteristics o...
The Plant journal : for cell and molecular biology
Jan 1, 2019
Recent advances in genomics technologies have greatly accelerated the progress in both fundamental plant science and applied breeding research. Concurrently, high-throughput plant phenotyping is becoming widely adopted in the plant community, promisi...
We have established diagnostic thresholds of very long-chain fatty acids (VLCFA) for the differential diagnosis of peroxisomal disorders using the machine learning tools. The plasma samples of 131 controls and 90 cases were tested for VLCFA using gas...
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology
Nov 1, 2018
AIMS: Diagnosing long QT syndrome (LQTS) is challenging due to a considerable overlap of the QTc-interval between LQTS patients and healthy controls. The aim of this study was to investigate the added value of T-wave morphology markers obtained from ...
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