Comparison between expected and observed number of alleles for each locus.Noa SlaterYoram LouzounLoren GragertMartin MaiersAnsu ChatterjeeMark Albrecht
Function analysis indicated that the majority of observed uncommon variants in this study appeared to be functionally neutral in the Southern Han Chinese. In summary, we discover a great number of novel and low allele frequency DNA variants recurring in the exomes of Southern Han Chinese, which ...
CDR3 Levenshtein distance (LD) reflects the maximum number of edit distances between CDR3 sequences belonging to a clonotype.55 Clonotypes and partner-chain coherence are defined at the level of the gene. Baseline mean coherence values for both the α and β chains were low and roughly ...
1d). The number of mutation subtypes (e.g., Non-synonymous, Synonymous, UTR, Intronic, Splicing, and Intergenic) for HIF and blood somatic SNVs showed no significant differences between AD and non-AD individuals (Fig. 1g). We also found that 86.4% (657/760) and 76.8% (2186/2846) of...
Although such a test is relatively straightforward for two alleles, it is more complex for multiple alleles (n ≥ 3).22 Tests of HWE are often performed using Pearson's χ2 goodness-of-fit test. It is now well established that this asymptotic method is unreliable for small samples and is...
Type I and Type II. CAA type I distinguishes itself from type II by the presence of Aβdeposits in the cortical capillaries, additional to Aβinclusions in the leptomeningeal and cortical vessels [61]. Genetically, a distinction can be made since the frequency ofAPOEε4 alleles is up to fo...
For the application of the PP3/BP4 codes, VCEPs differ significantly in their rules defining the level of computational evidence required to indicate a deleterious splicing effect (Table S1). Such differences include the number of splicing prediction tools used, the type of tool(s) to be used...
Multi-Locus Sequencing (MLS) results: variability of single gene regions, number of observed alleles, genetic diversity and probability of genetic recombination.Andrey YurkovMarco A. GuerreiroLav SharmaClaudia CarvalhoÁlvaro Fonseca
This research postulates an alternative explanation of deficiency of apparent heterozygosity which is caused by the inability to detect extremely small-sized alleles (called 'non-detectable' alleles) due to the sensitivity of Southern gel electrophoresis. We show that the presence of 'non-detectable’...
Let us suppose a population segregating fbr a pair of alleles or karyo- types A and A', and suppose that in the fbunding population (genera- tion 0) A has the frequency q0 in both males and females. Then in the next generation (t = i), the probability that an individual chosen at...