A combined polygenic score of 21,293 rare and 22 common variants improves diabetes diagnosis based on hemoglobin A1C levels
Polygenic scores (PGSs) combine the effects of common genetic variants, to predict risk or
treatment strategies for complex diseases,,,–. Adding rare variation to PGSs has largely …
treatment strategies for complex diseases,,,–. Adding rare variation to PGSs has largely …
Impact of rare and common genetic variants on diabetes diagnosis by hemoglobin A1c in multi-ancestry cohorts: the trans-omics for precision medicine program
Hemoglobin A1c (HbA1c) is widely used to diagnose diabetes and assess glycemic control
in individuals with diabetes. However, nonglycemic determinants, including genetic …
in individuals with diabetes. However, nonglycemic determinants, including genetic …
Genetic risk scores for diabetes diagnosis and precision medicine
During the last decade, there have been substantial advances in the identification and
characterization of DNA sequence variants associated with individual predisposition to type …
characterization of DNA sequence variants associated with individual predisposition to type …
Utility of genetic risk scores in type 1 diabetes
Iterative advances in understanding of the genetics of type 1 diabetes have identified> 70
genetic regions associated with risk of the disease, including strong associations across the …
genetic regions associated with risk of the disease, including strong associations across the …
Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes
Genome sequencing can identify individuals in the general population who harbor rare
coding variants in genes for Mendelian disorders,,,,,, and who may consequently have …
coding variants in genes for Mendelian disorders,,,,,, and who may consequently have …
Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations
A key public health need is to identify individuals at high risk for a given disease to enable
enhanced screening or preventive therapies. Because most common diseases have a …
enhanced screening or preventive therapies. Because most common diseases have a …
Polygenic type 2 diabetes prediction at the limit of common variant detection
Genome-wide association studies (GWAS) may have reached their limit of detecting
common type 2 diabetes (T2D)–associated genetic variation. We evaluated the performance …
common type 2 diabetes (T2D)–associated genetic variation. We evaluated the performance …
The (in) famous GWAS P-value threshold revisited and updated for low-frequency variants
Genome-wide association studies (GWAS) have long relied on proposed statistical
significance thresholds to be able to differentiate true positives from false positives. Although …
significance thresholds to be able to differentiate true positives from false positives. Although …
Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta …
Background Glycated hemoglobin (HbA1c) is used to diagnose type 2 diabetes (T2D) and
assess glycemic control in patients with diabetes. Previous genome-wide association …
assess glycemic control in patients with diabetes. Previous genome-wide association …
Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes
V Steinthorsdottir, G Thorleifsson, P Sulem… - Nature …, 2014 - nature.com
Through whole-genome sequencing of 2,630 Icelanders and imputation into 11,114
Icelandic cases and 267,140 controls followed by testing in Danish and Iranian samples, we …
Icelandic cases and 267,140 controls followed by testing in Danish and Iranian samples, we …