SAGES 2018, Symposium on Advances in Genomics, Epidemiology and Statistics 2018, Philadelphia, PA, USA, June 1, 2018: Abstracts
Hum Hered 2017 –18;83:40–53 (Source: Human Heredity)
Source: Human Heredity - May 31, 2018 Category: Genetics & Stem Cells Source Type: research

Using Gene Genealogies to Localize Rare Variants Associated with Complex Traits in Diploid Populations
Conclusions: Our results confirm earlier findings in haploid populations about potential gains in performance from genealogy-based approaches. They also highlight differences between haploid and diploid populations when localizing and detecting causal variants.Hum Hered 2017 –18;83:30–39 (Source: Human Heredity)
Source: Human Heredity - May 16, 2018 Category: Genetics & Stem Cells Source Type: research

46th European Mathematical Genetics Meeting (EMGM) 2018, Cagliari, Italy, April 18-20, 2018: Abstracts
Hum Hered 2017 –18;83:1–29 (Source: Human Heredity)
Source: Human Heredity - April 17, 2018 Category: Genetics & Stem Cells Source Type: research

Contents Vol. 82, 2016
Hum Hered 2016;82:I-II (Source: Human Heredity)
Source: Human Heredity - November 21, 2017 Category: Genetics & Stem Cells Source Type: research

A New Baltic Population-Specific Human Genetic Marker in the PMCA4 Gene
Conclusions: Our results revealed no significant difference in frequencies of genetic variants inPMCA4 gene between men with normal and those with reduced sperm motility. The adenine allele of the variant rs147729934 is potentially an informative tool for future population studies concerning ancient Baltic and Finno-Ugric history.Hum Hered 2016;82:140-146 (Source: Human Heredity)
Source: Human Heredity - November 2, 2017 Category: Genetics & Stem Cells Source Type: research

A New Baltic Population-Specific Human Genetic Marker in the < b > < i > PMCA4 < /i > < /b > Gene
Conclusions: Our results revealed no significant difference in frequencies of genetic variants inPMCA4 gene between men with normal and those with reduced sperm motility. The adenine allele of the variant rs147729934 is potentially an informative tool for future population studies concerning ancient Baltic and Finno-Ugric history.Hum Hered 2016;82:140-146 (Source: Human Heredity)
Source: Human Heredity - November 1, 2017 Category: Genetics & Stem Cells Source Type: research

Estimation of Trait-Model Parameters in a MOD Score Linkage Analysis
Conclusion: Our results provide guidance to researchers regarding the possibility to estimate trait-model parameters by a MOD score analysis, including the degree of imprinting, with certain types of pedigrees.Hum Hered 2016;82:103-139 (Source: Human Heredity)
Source: Human Heredity - October 31, 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 - October 25, 2017 Category: Genetics & Stem Cells Source Type: research

Contents Vol. 81, 2016
Hum Hered 2016;81:I-IV (Source: Human Heredity)
Source: Human Heredity - October 25, 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 - October 25, 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 - October 25, 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 - October 25, 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 - October 25, 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 - October 25, 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 - October 25, 2017 Category: Genetics & Stem Cells Source Type: research