From big data to precision medicine
For over a decade the term “Big data” has been used to describe the rapid increase in
volume, variety and velocity of information available, not just in medical research but in …
volume, variety and velocity of information available, not just in medical research but in …
Artificial intelligence in clinical and genomic diagnostics
R Dias, A Torkamani - Genome medicine, 2019 - Springer
Artificial intelligence (AI) is the development of computer systems that are able to perform
tasks that normally require human intelligence. Advances in AI software and hardware …
tasks that normally require human intelligence. Advances in AI software and hardware …
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
Abstract The Human Phenotype Ontology (HPO)—a standardized vocabulary of phenotypic
abnormalities associated with 7000+ diseases—is used by thousands of researchers …
abnormalities associated with 7000+ diseases—is used by thousands of researchers …
[HTML][HTML] Mapping ICD-10 and ICD-10-CM codes to phecodes: workflow development and initial evaluation
Background: The phecode system was built upon the International Classification of
Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) for phenome-wide association …
Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) for phenome-wide association …
Using phecodes for research with the electronic health record: from PheWAS to PheRS
L Bastarache - Annual review of biomedical data science, 2021 - annualreviews.org
Electronic health records (EHRs) are a rich source of data for researchers, but extracting
meaningful information out of this highly complex data source is challenging. Phecodes …
meaningful information out of this highly complex data source is challenging. Phecodes …
[HTML][HTML] CAG repeat not polyglutamine length determines timing of Huntington's disease onset
Variable, glutamine-encoding, CAA interruptions indicate that a property of the uninterrupted
HTT CAG repeat sequence, distinct from the length of huntingtin's polyglutamine segment …
HTT CAG repeat sequence, distinct from the length of huntingtin's polyglutamine segment …
Insights into genetics, human biology and disease gleaned from family based genomic studies
Identifying genes and variants contributing to rare disease phenotypes and Mendelian
conditions informs biology and medicine, yet potential phenotypic consequences for …
conditions informs biology and medicine, yet potential phenotypic consequences for …
Assessing the pathogenicity, penetrance, and expressivity of putative disease-causing variants in a population setting
More than 100,000 genetic variants are classified as disease causing in public databases.
However, the true penetrance of many of these rare alleles is uncertain and might be over …
However, the true penetrance of many of these rare alleles is uncertain and might be over …
Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset
B McAllister, J Donaldson, CS Binda, S Powell… - Nature …, 2022 - nature.com
The age at onset of motor symptoms in Huntington's disease (HD) is driven by HTT CAG
repeat length but modified by other genes. In this study, we used exome sequencing of 683 …
repeat length but modified by other genes. In this study, we used exome sequencing of 683 …
Pan-UK Biobank GWAS improves discovery, analysis of genetic architecture, and resolution into ancestry-enriched effects
Large biobanks, such as the UK Biobank (UKB), enable massive phenome by genome-wide
association studies that elucidate genetic etiology of complex traits. However, individuals …
association studies that elucidate genetic etiology of complex traits. However, individuals …