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- Human Genetic Disorders: Studying Single-Gene (Mendelian . . . - Nature
Although polygenic diseases are more common than single-gene disorders, studies of monogenic diseases provide an invaluable opportunity to learn about underlying molecular mechanisms, thereby
- Monogenic diabetes - Nature Reviews Disease Primers
Monogenic diabetes encompasses forms of diabetes that result from a single pathogenic genetic alteration and usually have an early onset This Primer gives an overview of the epidemiology
- The use of precision diagnostics for monogenic diabetes: a . . . - Nature
To investigate the evidence for who to test for monogenic diabetes, how to test them and how to interpret a gene variant, we set out to systematically review the yield of monogenic diabetes using
- Monogenic and polygenic inheritance become instruments for . . . - Nature
Monogenic inherited forms of clonal haematopoiesis We next sought to identify specific genes and variants that might propel clonal selection
- Detecting monogenic obesity: a systematic exome-wide workup of . . . - Nature
This study aims to (i) assess the diagnostic yield of monogenic obesity in a large patient sample using exome-wide data, (ii) identify predictors to improve genetic testing criteria, and (iii
- Polygenic background modifies penetrance of monogenic variants . . . - Nature
Genetic variation predisposes to disease via monogenic and polygenic risk variants Here, the authors assess the interplay between these types of variation on disease penetrance in 80,928
- A resource to explore the discovery of rare diseases and their . . .
Here, we describe a dataset with information about monogenic, rare diseases with a known genetic background, supplemented with manually extracted provenance for the disease itself and the
- Human monogenic disorders — a source of novel drug targets
Less attention has been given to studying monogenic (that is, Mendelian) human disorders as a source of drug targets Monogenic human genetics provides an ideal opportunity for target validation
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