Variance Formulae for Correlation Measures of Linkage Disequilibrium
Conclusions: Symbolic computation proved to be effective in facilitating algebraic derivations which would otherwise have been intractable.Hum Hered 2016;82:75-85 (Source: Human Heredity)
Source: Human Heredity - October 25, 2017 Category: Genetics & Stem Cells Source Type: research

Consanguinity Rates Predict Long Runs of Homozygosity in Jewish Populations
Conclusion: The high correlation between 1950s consanguinity levels and coverage by long ROH explains differences across populations in ROH patterns. The dissection of ROH into length classes and the comparison to consanguinity data assist in understanding a number of additional phenomena, including similarities of Jewish populations to Middle Eastern, European, and Central and South Asian non-Jewish populations in short ROH patterns, relative lengths of identity-by-descent tracts in different Jewish groups, and the “population isolate” status of the Ashkenazi Jews.Hum Hered 2016;82:87-102 (Source: Human Heredity)
Source: Human Heredity - October 25, 2017 Category: Genetics & Stem Cells Source Type: research

Variance Formulae for Correlation Measures of Linkage Disequilibrium
Conclusions: Symbolic computation proved to be effective in facilitating algebraic derivations which would otherwise have been intractable.Hum Hered 2016;82:75-85 (Source: Human Heredity)
Source: Human Heredity - September 7, 2017 Category: Genetics & Stem Cells Source Type: research

Parametric Linkage Analysis Identifies Five Novel Genome-Wide Significant Loci for Familial Lung Cancer
Conclusions: The 5 novel signals are good candidate regions, containing genes that have been implicated as having somatic changes in lung cancer or other cancers (though not in germ line cells). Targeted sequencing on the significant loci is planned to determine the causal variants at these loci.Hum Hered 2016;82:64-74 (Source: Human Heredity)
Source: Human Heredity - August 17, 2017 Category: Genetics & Stem Cells Source Type: research

Efficient Statistical Method for Association Analysis of X-Linked Variants
Conclusion: Therefore, we can conclude that the proposed approaches are robust against the various XCI processes for testing the association of X-linked single nucleotide polymorphisms with the disease of interest and the proposed method is a practical solution.Hum Hered 2016;82:50-63 (Source: Human Heredity)
Source: Human Heredity - August 15, 2017 Category: Genetics & Stem Cells Source Type: research

Estimation of FST and the Impact of de novo Mutation
Conclusions: These results improve and simplify the use and interpretation ofFST in studies of population structure.Hum Hered 2016;82:37-49 (Source: Human Heredity)
Source: Human Heredity - August 3, 2017 Category: Genetics & Stem Cells Source Type: research

Estimation of < b > < i > F < /i > < /b > < sub > < i > ST < /i > < /sub > and the Impact of de novo Mutation
Conclusions: These results improve and simplify the use and interpretation ofFST in studies of population structure.Hum Hered 2016;82:37-49 (Source: Human Heredity)
Source: Human Heredity - August 2, 2017 Category: Genetics & Stem Cells Source Type: research

Statistical Interactions from a Growth Curve Perspective
Logistic regression is widely used to evaluate the association between risk factors and a binary outcome. The logistic curve is symmetric around its point of inflection. Alternative families of curves, such as the additive Gompertz or Guerrero-Johnson models, have been proposed in various scenarios due to their asymmetry: disease risk may initially increase rapidly and be followed by a longer period where the rate of growth slowly decreases. When modeling binary outcomes in relation to risk factors, an additive logistic model may not provide a good fit to the data. Suppose the outcome and an additive function of the risk f...
Source: Human Heredity - July 25, 2017 Category: Genetics & Stem Cells Source Type: research

Genetic Variants of Cytochrome CYP2D6 in Two Mixed Chilean Populations
Conclusion: Our data indicate ethnic group-dependent genetic differences in the vulnerability to treatment with the large variety of drugs metabolized by the enzymeCYP2D6.Hum Hered 2016;82:16-20 (Source: Human Heredity)
Source: Human Heredity - July 21, 2017 Category: Genetics & Stem Cells Source Type: research

Genetic Variants of Cytochrome < b > < i > CYP2D6 < /i > < /b > in Two Mixed Chilean Populations
Conclusion: Our data indicate ethnic group-dependent genetic differences in the vulnerability to treatment with the large variety of drugs metabolized by the enzymeCYP2D6.Hum Hered 2016;82:16-20 (Source: Human Heredity)
Source: Human Heredity - July 20, 2017 Category: Genetics & Stem Cells Source Type: research

Efficient Maximum Likelihood Estimation for Pedigree Data with the Sum-Product Algorithm
Conclusion: We introduce a flexible and runtime-efficient tool for statistical inference in biomedical event data with latent variables that opens the door for advanced analyses of pedigree data.Hum Hered 2016;82:1-15 (Source: Human Heredity)
Source: Human Heredity - July 20, 2017 Category: Genetics & Stem Cells Source Type: research

Contents Vol. 81, 2016
Hum Hered 2016;81:I-IV (Source: Human Heredity)
Source: Human Heredity - May 2, 2017 Category: Genetics & Stem Cells Source Type: research

45th European Mathematical Genetics Meeting (EMGM) 2017, Tartu, Estonia, April 4-7, 2017: Abstracts
Hum Hered 2016;81:211-238 (Source: Human Heredity)
Source: Human Heredity - April 3, 2017 Category: Genetics & Stem Cells Source Type: research

An Analytic Solution to the Computation of Power and Sample Size for Genetic Association Studies under a Pleiotropic Mode of Inheritance
Our motivation here is to calculate the power of 3 statistical tests used when there are genetic traits that operate under a pleiotropic mode of inheritance and when qualitative phenotypes are defined by use of thresholds for the multiple quantitative phenotypes. Specifically, we formulate a multivariate function that provides the probability that an individual has a vector of specific quantitative trait values conditional on having a risk locus genotype, and we apply thresholds to define qualitative phenotypes (affected, unaffected) and compute penetrances and conditional genotype frequencies based on the multivariate fun...
Source: Human Heredity - March 17, 2017 Category: Genetics & Stem Cells Source Type: research