Polygenic risk score as a possible tool for identifying familial monogenic causes of complex diseases

The Polygenic Score Catalog as an open database for reproducibility and systematic evaluation

(2021) Samuel A. Lambert et al.   NATURE GENETICS

Improved prediction of fracture risk leveraging a genome-wide polygenic risk score

(2021) Tianyuan Lu et al.   Genome Medicine

Penetrance and outcomes at 1-year following return of actionable variants identified by genome sequencing

(2021) Christopher Lee et al.   GENETICS IN MEDICINE

ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

(2021) David T. Miller et al.   GENETICS IN MEDICINE

A polygenic risk score to predict future adult short stature amongst children

(2021) Tianyuan Lu et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Genetic Testing and Screening Recommendations for Patients with Hereditary Breast Cancer

(2020) Puja P. Bharucha et al.   RADIOGRAPHICS

Clinical outcomes of a genomic screening program for actionable genetic conditions

(2020) Adam H. Buchanan et al.   GENETICS IN MEDICINE

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

(2020) Daniel R. Barnes et al.   GENETICS IN MEDICINE

Recommendations for Choosing the Genotyping Method and Best Practices for Quality Control in Crop Genome-Wide Association Studies

(2020) Stefano Pavan et al.   Frontiers in Genetics

Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions

(2020) Akl C. Fahed et al.   Nature Communications

Clinical use of current polygenic risk scores may exacerbate health disparities

(2019) Alicia R. Martin et al.   NATURE GENETICS

A Cost-effectiveness Analysis of Multigene Testing for All Patients With Breast Cancer

(2019) Li Sun et al.   JAMA Oncology

The personal and clinical utility of polygenic risk scores

(2018) Ali Torkamani et al.   NATURE REVIEWS GENETICS

Strongly enhanced colorectal cancer risk stratification by combining family history and genetic risk score

(2018) Korbinian Weigl et al.   Clinical Epidemiology

Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations

(2018) Amit V. Khera et al.   NATURE GENETICS

The genetic risk of Alzheimer’s disease beyond APOE ε4: systematic review of Alzheimer’s genetic risk scores

(2018) Hannah Stocker et al.   Translational Psychiatry

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

(2018) Nasim Mavaddat et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetics of Monogenic Diabetes: Present Clinical Challenges

(2018) Shivani Misra et al.   Current Diabetes Reports

Genomic Risk Prediction of Coronary Artery Disease in 480,000 Adults

(2018) Michael Inouye et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

(2017) Karoline B Kuchenbaecker et al.   JNCI-Journal of the National Cancer Institute

Genetic assessment of age-associated Alzheimer disease risk: Development and validation of a polygenic hazard score

(2017) Rahul S. Desikan et al.   PLOS MEDICINE

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

(2017) Karoline B Kuchenbaecker et al.   JNCI-Journal of the National Cancer Institute

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

(2016) Sarah S. Kalia et al.   GENETICS IN MEDICINE

Genetic identification of familial hypercholesterolemia within a single U.S. health care system

(2016) Noura S. Abul-Husn et al.   SCIENCE

ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes

(2015) Sapna Syngal et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

(2014) Hane Lee et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

ACMG clinical laboratory standards for next-generation sequencing

(2013) Heidi L. Rehm et al.   GENETICS IN MEDICINE

Apolipoprotein E and Alzheimer disease: risk, mechanisms and therapy

(2013) Chia-Chen Liu et al.   Nature Reviews Neurology

Guidelines for Colonoscopy Surveillance After Screening and Polypectomy: A Consensus Update by the US Multi-Society Task Force on Colorectal Cancer

(2012) David A. Lieberman et al.   GASTROENTEROLOGY

Influence of Race/Ethnicity on Genetic Counseling and Testing for Hereditary Breast and Ovarian Cancer

(2009) Andrea D. Forman et al.   Breast Journal

A genetic diagnosis ofHNF1Adiabetes alters treatment and improves glycaemic control in the majority of insulin-treated patients

(2009) M. Shepherd et al.   DIABETIC MEDICINE