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The high success rate in mutation identification is a prerequisite, though is not sufficient, for the detection of novel genes.
Unfortunately, Sanger sequencing, the current gold standard for mutation identification, is not able to detect these low-abundance mutations (mutation load < 20%) [ 11].
The gene RXFP2 has been linked with horn type, 40 though in this case no functional data or mutation identification is currently available to confirm this effect.
32 In a patient with an overt cardiomyopathy, the yield of mutation identification is variable according to the disease: 50 70% in HCM and around 40% in ARVC.
It therefore appears that domestication traits do not appear to exhibit more pleiotropy than quantitative traits in general, though with the caveat that additional mutation identification is most likely required to verify this statement.
Nordström et al. [ 39] furthermore demonstrated that mutation identification is feasible even without relying on any kind of recombination by searching for common genes that are disrupted in two different mutants with the same phenotype derived from the same mutagenesis screen.
Similar(54)
V(D J assignment and mutation identification was performed using an implementation of SoDA42.
In the laser-microdissected samples, confident mutation identification was possible in all cases with direct sequencing of the original PCR product, reducing the time required for molecular analysis to 3 days.
28 (7 men/21 women) lean subjects with a BMI of 20.0±1.7 kg/m2 were from study group 2. Mutation identification was performed using single-strand conformation polymorphism of the coding region (including intron-exon boundaries) along with 378 base pairs of the minimal promoter relative to the ATG site of GHSR (NCBI accession number: AY322544 and AF369786) on DNA from Danish probands.
Mutation identification was made using PTT and direct sequencing.
Current dideoxy (Sanger) sequencing based methods for mutation identification are expensive and labor intensive even with a high degree of automation.
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