[HTML][HTML] Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes
JK Goodrich, M Singer-Berk, R Son, A Sveden… - Nature …, 2021 - nature.com
Hundreds of thousands of genetic variants have been reported to cause severe monogenic
diseases, but the probability that a variant carrier develops the disease (termed penetrance) …
diseases, but the probability that a variant carrier develops the disease (termed penetrance) …
Exome sequencing in suspected monogenic dyslipidemias
Background—Exome sequencing is a promising tool for gene mapping in Mendelian
disorders. We used this technique in an attempt to identify novel genes underlying …
disorders. We used this technique in an attempt to identify novel genes underlying …
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 …
[HTML][HTML] Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes
A Albrechtsen, N Grarup, Y Li, T Sparsø, G Tian, H Cao… - Diabetologia, 2013 - Springer
Aims/hypothesis Human complex metabolic traits are in part regulated by genetic
determinants. Here we applied exome sequencing to identify novel associations of coding …
determinants. Here we applied exome sequencing to identify novel associations of coding …
[HTML][HTML] Rare variant contribution to human disease in 281,104 UK Biobank exomes
Genome-wide association studies have uncovered thousands of common variants
associated with human disease, but the contribution of rare variants to common disease …
associated with human disease, but the contribution of rare variants to common disease …
Genome-wide polygenic score to identify a monogenic risk-equivalent for coronary disease
Identification of individuals at increased genetic risk for a complex disorder such as coronary
disease can facilitate treatments or enhanced screening strategies. A rare monogenic …
disease can facilitate treatments or enhanced screening strategies. A rare monogenic …
[PDF][PDF] 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 …
Systematic single-variant and gene-based association testing of thousands of phenotypes in 426,370 UK Biobank exomes
Genome-wide association studies have successfully discovered thousands of common
variants associated with human diseases and traits, but the landscape of rare variation in …
variants associated with human diseases and traits, but the landscape of rare variation in …
[HTML][HTML] Using high-resolution variant frequencies to empower clinical genome interpretation
Purpose Whole-exome and whole-genome sequencing have transformed the discovery of
genetic variants that cause human Mendelian disease, but discriminating pathogenic from …
genetic variants that cause human Mendelian disease, but discriminating pathogenic from …
Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes
We aggregated coding variant data for 81,412 type 2 diabetes cases and 370,832 controls
of diverse ancestry, identifying 40 coding variant association signals (P< 2.2× 10− 7); of …
of diverse ancestry, identifying 40 coding variant association signals (P< 2.2× 10− 7); of …