Improving reporting standards for polygenic scores in risk prediction studies
H Wand, SA Lambert, C Tamburro, MA Iacocca… - Nature, 2021 - nature.com
Polygenic risk scores (PRSs), which often aggregate results from genome-wide association
studies, can bridge the gap between initial discovery efforts and clinical applications for the …
studies, can bridge the gap between initial discovery efforts and clinical applications for the …
Laboratory perspectives in the development of polygenic risk scores for disease: A points to consider statement of the American College of Medical Genetics and …
Disclaimer: This Points to Consider document is designed primarily as an educational resource
for clinical laboratory geneticists to help them provide quality clinical laboratory genetic …
for clinical laboratory geneticists to help them provide quality clinical laboratory genetic …
ClinVar database of global familial hypercholesterolemia‐associated DNA variants
…, P Benlian, R O'Connor, J Garcia, H Wand… - Human …, 2018 - Wiley Online Library
Accurate and consistent variant classification is imperative for incorporation of rapidly
developing sequencing technologies into genomic medicine for improved patient care. An …
developing sequencing technologies into genomic medicine for improved patient care. An …
[HTML][HTML] The need for polygenic score reporting standards in evidence-based practice: lipid genetics use case
H Wand, JW Knowles, SL Clarke - Current opinion in lipidology, 2021 - journals.lww.com
Lipid PGS are likely to be integrated into clinical practice in the future. Clinicians will need to
be prepared to determine if and when lipid PGS is useful and valid. This decision-making …
be prepared to determine if and when lipid PGS is useful and valid. This decision-making …
Including multiracial individuals is crucial for race, ethnicity and ancestry frameworks in genetics and genomics
Current ontologies of race, ethnicity and genetic ancestry rely on categorization, but have
limitations — as exemplified by multiracial individuals. We argue that including these …
limitations — as exemplified by multiracial individuals. We argue that including these …
The clinical imperative for inclusivity: race, ethnicity, and ancestry (REA) in genomics
…, B Koenig, EM Ramos, EP Sorokin, H Wand… - Human …, 2018 - Wiley Online Library
The Clinical Genome Resource (ClinGen) Ancestry and Diversity Working Group highlights
the need to develop guidance on race, ethnicity, and ancestry (REA) data collection and use …
the need to develop guidance on race, ethnicity, and ancestry (REA) data collection and use …
[HTML][HTML] The clinical genome resource (ClinGen) familial hypercholesterolemia variant curation expert panel consensus guidelines for LDLR variant classification
Purpose In 2015, the American College of Medical Genetics and Genomics (ACMG) and the
Association for Molecular Pathology (AMP) published consensus standardized guidelines …
Association for Molecular Pathology (AMP) published consensus standardized guidelines …
[PDF][PDF] Clinical genetics lacks standard definitions and protocols for the collection and use of diversity measures
…, N Pino, EM Ramos, DI Ritter, H Wand… - The American Journal of …, 2020 - cell.com
Genetics researchers and clinical professionals rely on diversity measures such as race,
ethnicity, and ancestry (REA) to stratify study participants and patients for a variety of …
ethnicity, and ancestry (REA) to stratify study participants and patients for a variety of …
[HTML][HTML] Finding missed cases of familial hypercholesterolemia in health systems using machine learning
Familial hypercholesterolemia (FH) is an underdiagnosed dominant genetic condition affecting
approximately 0.4% of the population and has up to a 20-fold increased risk of coronary …
approximately 0.4% of the population and has up to a 20-fold increased risk of coronary …
[HTML][HTML] Validation of an integrated risk tool, including polygenic risk score, for atherosclerotic cardiovascular disease in multiple ethnicities and ancestries
…, A Saffari, RM Sivley, AS Lachapelle, H Wand… - The American journal of …, 2021 - Elsevier
The American College of Cardiology / American Heart Association pooled cohort equations
tool (ASCVD-PCE) is currently recommended to assess 10-year risk for atherosclerotic …
tool (ASCVD-PCE) is currently recommended to assess 10-year risk for atherosclerotic …