Genotype phenotype
Stochasticity in the Genotype-Phenotype Map: Implications for the Robustness and Persistence of Bet-Hedging
... drug-sensitive phenotype as the sto- chastic relaxation from a state of high to low gene expres- ...their phenotype, and, thus, can increase the likelihood of therapeutic escape occurring through ...
25
Identifying genotype-phenotype relationships in biomedical text
... and genotype-phenotype rela- tionships and these structures are useful for distinguishing correct from incorrect relationship ...some genotype-phenotype relationship contexts which are ...
16
Genotype, phenotype: upstairs, downstairs in the family of cardiomyopathies
... is Genotype, Phenotype, and the initial storyline revolves around the precept that the primary determinant of the clinical phenotype is the molecular ...
5
Genotype phenotype correlations of amyotrophic lateral sclerosis
... respective genotype-phenotype correlation has important implications for the genetic ...possible genotype-phenotype correlations of ...
10
Detecting High-Order Epistasis in Nonlinear Genotype-Phenotype Maps
... b-lactamase genotype-phenotype map (III, Figure 4), this may be an artifact of the original analysis used to generate the data set (Weinreich et ...the genotype-phenotype ...
10
Efficient techniques for genotype‐phenotype correlational analysis
... A subset of single nucleotide polymorphisms (SNPs) can be used to capture the majority of the information of genotype-phenotype association studies. The primary purpose of this research is to select a ...
11
The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype
... on myotonic dystrophy type I (DM1) is informative on this point. Similar to C9ORF72-related disease, DM1 is caused by a repeat expansion in a non-coding region of DMPK. In DM1, correlation between repeat size and ...
13
Genotype-phenotype correlation in Pompe disease, a step forward
... that genotype-phenotype correlation is strict, meaning that biallelic mutations able to completely abolish protein function cause the classic infantile Pompe disease, while the presence of at least one ...
11
Genotype phenotype relationship in hereditary amyotrophic lateral sclerosis
... Amyotrophic lateral sclerosis (ALS) is the most common adult-onset motor neuron disease. It is characterized by neuronal loss and degeneration of the upper motor neurons (UMNs) and lower motor neurons (LMNs), and is ...
13
Genotype-phenotype correlations in recessive RYR1-related myopathies
... There has been a recent explosion in the identification of new cases of congenital myopathies due to RYR1 mu- tations, particularly those with recessive inheritance. It is thus now possible to perform mutation ...
12
Multivariate Analysis of Genotype–Phenotype Association
... multivariate genotype–phenotype mapping (MGP) separates phenotypic features under strong genetic control from less genetically determined features and thus permits an analysis of the multivariate structure ...
26
Genotype Phenotype Associations in a Nonmodel Prokaryote
... ABSTRACT To help define the biological functions of nonessential genes of Francisella novicida, we measured the growth of ar- rayed members of a comprehensive transposon mutant library under a variety of nutrition and ...
8
The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome
... the phenotype-genotype connection has classically proved ...on genotype is EL, which has been associated with missense type mutations (particularly those that affect cysteine residues), and the ...
9
Investigating Genotype-Phenotype relationship extraction from biomedical text
... Figure 10.2 shows the dependency tree produced by the Stanford dependency parser 2 for the sentence “The association of Genotype1 with Phenotype2 is confirmed.”. Using this depen- dency tree, the dependency path between ...
148
Genotype-phenotype correlations in FSHD
... Interestingly, the frequency of pathogenic contraction of the D4Z4 array on the 4qA haplotype is approxi- mately 1 – 2% [ 29 , 39 ] in the population of healthy individuals, which can be[r] ...
7
Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness
... A] genotype, associ- ated with a null predicted residual activity, was observed in five PKU non-responsive patients, one tPKU patient carrying this genotype showed a positive BH4 responsive test (H0 1356 ...
22
Visualizing genotype × phenotype relationships in the GAW15 simulated data
... Figure 2A and 2B correspond to plot type 2 for SNPs 387 and 388, respectively. These plots reflect the weaker dependence of SNP genotype frequencies on covariate val- ues with decreasing LD between alleles at the ...
6
On the Pleiotropic Structure of the Genotype–Phenotype Map and the Evolvability of Complex Organisms
... The simulations show that the high values of modularity they obtained (. 0.2 say) are more likely in our model if there are large correlations within modules, high threshold values, high[r] ...
7
Genetic diagnosis in Lafora disease: Genotype–phenotype correlations and diagnostic pitfalls
... Results. A de novo heterozygous c.406C ¡ T muta- tion in exon 4 of the LGI1/Epitempin gene, resulting in an arginine to tryptophan substitution at position 136 (Arg136Trp), was detected by denaturing high- performance ...
5
TBC1D24 genotype–phenotype correlationEpilepsies and other neurologic features
... clonic, tonic, absence, tonic-clonic with or without apparent focal onset, and focal seizures with retained or impaired awareness. Myoclonic or clonic seizures were the most frequent seizure types (29/48, 60%), often ...
11