- Digenic or oligogenic mutations in presumed monogenic disorders🔍
- Digenic or oligogenic mutations in presumed monogenic disorders ...🔍
- Digenic Inheritance in Rare Disorders and Mitochondrial Disease ...🔍
- Genetic Modifiers and Oligogenic Inheritance🔍
- Identification and quantification of oligogenic loss|of|function disorders🔍
- An accurate prediction model of digenic interaction for estimating ...🔍
- Identifying modifier genes of monogenic disease🔍
- Identifying digenic disease genes via machine learning in the ...🔍
Digenic or oligogenic mutations in presumed monogenic disorders
Digenic or oligogenic mutations in presumed monogenic disorders
Digenic inheritance refers to the involvement of mutations in two genes to manifest a particular phenotype or disease.
Digenic or oligogenic mutations in presumed monogenic disorders
However, recent advance- ments in genomics have revealed instances where the phenotypic expression of apparently monogenic disorders cannot be.
Digenic or oligogenic mutations in presumed monogenic disorders
However, recent advancements in genomics have revealed instances where the phenotypic expression of apparently monogenic disorders cannot be fully explained by ...
Digenic or oligogenic mutations in presumed monogenic disorders ...
Semantic Scholar extracted view of "Digenic or oligogenic mutations in presumed monogenic disorders: A review" by Afif Ben-Mahmoud et al.
Digenic Inheritance in Rare Disorders and Mitochondrial Disease ...
Digenic inheritance is the simplest instance of a non-Mendelian disorder, characterized by the functional interplay of variants in two disease-contributing ...
Digenic or oligogenic mutations in presumed monogenic disorders
However, recent advancements in genomics have revealed instances where the phenotypic expression of apparently monogenic disorders cannot be fully explained by ...
Genetic Modifiers and Oligogenic Inheritance - PMC - NCBI
Allelic heterogeneity. Phenotypic variability can stem from mutations in different genes that contribute to disease endophenotypes. However, simpler models of ...
Digenic or oligogenic mutations in presumed monogenic disorders
Digenic or oligogenic mutations in presumed monogenic disorders: A review - Monogenic;Digenic;Oligogenic traits.
Identification and quantification of oligogenic loss-of-function disorders
Monogenic disorders can present clinically heterogeneous symptoms. We hypothesized that in patients with a monogenic disorder caused by a large deletion, ...
An accurate prediction model of digenic interaction for estimating ...
Increasing evidence shows that genetic interaction across the entire genome may explain a non-trivial fraction of genetic diseases. Digenic interaction is the ...
Editorial: Monogenic vs. Oligogenic Reclassification - Frontiers
Their findings illustrate a digenic inheritance involving PROKR2-CCDC141 and DUSP6-SEMA7A and hence confer more evidence that homozygous loss-of-function ...
DIDA: A curated and annotated digenic diseases database
It is not surprising that those three disorders form a large group in DIDA since their oligogenic nature is well studied. However, the majority (29 out of 44 or ...
Identifying modifier genes of monogenic disease - HAL-Inserm
refer to these situations as digenic or oligogenic inheritance models, depending on the number of genes involved (. ; ... given mutation known to be involved in ...
Identifying digenic disease genes via machine learning in the ...
... A burgeoning body of research supports the notion that digenic mutations can precipitate the onset of RP, illuminating alternative avenues of genetic ...
New findings in oligogenic inheritance of congenital ...
Numerous studies have proven that hypogonadotropic hypogonadism is not simply a monogenic Mendelian disease, but that more than one gene may be involved in its ...
An oligogenic inheritance test detects risk genes and their ... - bioRxiv
As genome sequencing is applied to more families and other disorders, GCOD will enable detection of increasingly large, novel gene combinations, ...
Genetic cause of immune dysregulation — one gene or two? - JCI
... assumed to be the deleterious genetic lesion — a ... genetic diseases that may occasionally be oligogenic, rather than monogenic.
Predicting disease-causing variant combinations - PNAS
where disease-causing monogenic mutations in different genes ... in digenic and oligogenic diseases, for their comments and valuable suggestions.
New findings in oligogenic inheritance of congenital ...
of sequence variants in monogenic diseases. We thus believe that the variant ... The prevalence of digenic mutations in patients with normosmic hypo-.
A hypomorphic variant in EYS detected by genome-wide association ...
... genetic risks in heterogeneous monogenic disorders. We successfully ... oligogenic fashion or as a disease modifier in combination with mutations ...