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 …

Clinicians are encouraged to document the reasons for the use of a particular procedure or
test, whether or not it is in conformance with this statement. Clinicians also are advised to …

Disclaimer: This statement is designed primarily as an educational resource for medical
geneticists and other clinicians to help them provide quality medical services. Adherence to …

Studies in human genetics deal with a plethora of human genome sequencing data that are
generated from specimens as well as available on public domains. With the development of …

Purpose Assessing the risk of common, complex diseases requires consideration of clinical
risk factors as well as monogenic and polygenic risks, which in turn may be reflected in …

African Americans have a significantly higher risk of develo** chronic kidney disease,
especially focal segmental glomerulosclerosis-, than European Americans. Two coding …

Numerous genes for monogenic kidney diseases with classical patterns of inheritance, as
well as genes for complex kidney diseases that manifest in combination with environmental …

Purpose Discovering an incidental finding (IF) or secondary finding (SF) is a potential result
of genomic testing, but few data exist describing types and frequencies of SFs likely to …

Over 100 million research participants around the world have had research array-based
genoty** (GT) or genome sequencing (GS), but only a small fraction of these have been …

Importance Knowledge about the spectrum of diseases associated with hereditary cancer
syndromes may improve disease diagnosis and management for patients and help to …