Publications by authors named "G A Hawkes"
Disease-causing variants in key immune homeostasis genes can lead to monogenic autoimmune diabetes. Some individuals carrying disease-causing variants do not develop autoimmune diabetes, even though they develop other autoimmune disease. We aimed to determine whether type 1 diabetes polygenic risk contributes to phenotypic presentation in monogenic autoimmune diabetes.
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- The study investigates how rare non-coding genetic variations affect complex traits, specifically focusing on human height by analyzing data from over 333,100 individuals across three large datasets.
- Researchers found 29 significant rare variants linked to height, with impacts ranging from a decrease of 7 cm to an increase of 4.7 cm, after considering previously known variants.
- The team also identified specific non-coding variants near key genes associated with height, demonstrating a new method for understanding the effects of rare variants in regulatory regions using whole-genome sequencing.
Article Synopsis
- Human genetic studies reveal new insights into the biological processes of ovarian aging through rare protein-coding variants in a large study of women.
- The genes identified (e.g., SAMHD1 and ZNF518A) show stronger effects on reproductive lifespan and cancer risk compared to common variants, with some variants linked to earlier menopause.
- The research suggests a connection between genetic factors influencing ovarian aging and an increased incidence of de novo mutations, highlighting the importance of DNA damage response in fertility.
Background: Genetic variants that severely alter protein products (e.g. nonsense, frameshift) are often associated with disease.
View Article and Find Full Text PDFInvestigating the genetic factors influencing human birth weight may lead to biological insights into fetal growth and long-term health. Genome-wide association studies of birth weight have highlighted associated variants in more than 200 regions of the genome, but the causal genes are mostly unknown. Rare genetic variants with robust evidence of association are more likely to point to causal genes, but to date, only a few rare variants are known to influence birth weight.
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