Test Gene-Environment Interactions for Multiple Traits in Sequencing Association Studies
Conclusions: Our proposed methods are useful tools in the identification of G ×Es for multiple traits. The proposed methods can be used not only to identify G×Es for common variants, but also for rare variants. Therefore, they can be employed in identifying G×Es in both genome-wide association studies and next-generation sequencing data analyses.Hum Hered 2019;84:170 –196 (Source: Human Heredity)
Source: Human Heredity - May 16, 2020 Category: Genetics & Stem Cells Source Type: research
48th European Mathematical Genetics Meeting (EMGM) 2020
Hum Hered 2019;84:203-232 (Source: Human Heredity)
Source: Human Heredity - April 8, 2020 Category: Genetics & Stem Cells Source Type: research
Frequency of < b > < i > BRCA1 < /i > < /b > and < b > < i > BRCA2 < /i > < /b > Mutations in Individuals with Breast and Ovarian Cancer in a Chinese Hakka Population Using Next-Generation Sequencing
Conclusions: Understanding the spectrum and frequency ofBRCA1 andBRCA2 mutations in a Hakka population will assist in the prevention and control of hereditary breast and ovarian cancers in this population.Hum Hered 2019;84:160 –169 (Source: Human Heredity)
Source: Human Heredity - February 26, 2020 Category: Genetics & Stem Cells Source Type: research
Heritability and Sex-Specific Genetic Effects of Self-Reported Physical Activity in a Brazilian Highly Admixed Population
Conclusion: The heritability estimates presented in this work show a moderate heritable set of genetic factors affecting PA in a sample from the Brazilian population. The evaluation of the genetic variance component suggests segregating genetic factors in male individuals are more heterogeneous, which can explain why men globally tend to need to practice more intense PA than women to achieve similar health benefits. Hence, these findings have significant implications for the understanding of the genetic architecture of PA and might aid to promote health in the future.Hum Hered 2019;84:151 –157 (Source: Human Heredity)
Source: Human Heredity - February 21, 2020 Category: Genetics & Stem Cells Source Type: research
Mathematical Properties of Linkage Disequilibrium Statistics Defined by Normalization of the Coefficient < b > < i > D < /i > < /b > = < b > < i > p < /i > < /b > < sub > < i > AB < /i > < /sub > – < b > < i > p < /i > < /b > < sub > < i > A < /i > < /sub > < b > < i > p < /i > < /b > < sub > < i > B < /i > < /sub >
Conclusion: The results contribute insight into LD measurement, particularly the understanding of differences in the features of different LD measures when computed on the same data.Hum Hered 2019;84:127 –143 (Source: Human Heredity)
Source: Human Heredity - February 11, 2020 Category: Genetics & Stem Cells Source Type: research
Meta-Analysis of SNP-Environment Interaction with Heterogeneity
Meta-analyses are widely used in genome-wide association studies to combine the results obtained from multiple studies. Classical random-effects methods treat genetic heterogeneity as a random effect and consider it as a portion of the variance associated with a fixed effect of the variant. Recent work suggests performing hypothesis testing with the null hypothesis under which neither fixed nor random effects exist for a variant. This method has been shown to perform better than classical random-effects methods. In this work, we propose a meta-analysis of testing single nucleotide polymorphism (SNP)-environment interaction...
Source: Human Heredity - December 19, 2019 Category: Genetics & Stem Cells Source Type: research
The Association of Partial Azoospermia Factor C Deletions and Male Infertility in Northwestern China
Conclusions: Our results suggest that the b2/b3 deletion might be associated with male infertility and that the gr/gr deletion might be associated with spermatogenic failure in men with OS in Northwestern China (Ningxia).Hum Hered 2019;84:144 –150 (Source: Human Heredity)
Source: Human Heredity - December 5, 2019 Category: Genetics & Stem Cells Source Type: research
Further Evidence for the Implication of the < b > < i > MET < /i > < /b > Gene in Non-Syndromic Autosomal Recessive Deafness
Mutations in the mesenchymal epithelial transition factor (MET) gene are frequently associated with multiple human cancers but can also lead to human non-syndromic autosomal recessive deafness (DFNB97). In the present study, we identified a novel homozygous missense mutation in theMETgene causing a non-syndromic hearing impairment DFNB97 form. Whole-exome sequencing was performed to determine the genetic causes of hearing loss in a Moroccan consanguineous family with an affected daughter. The structural analysis of native and mutant in the SEMA domain of the MET receptor was investigated using a molecular dynamics simulati...
Source: Human Heredity - December 4, 2019 Category: Genetics & Stem Cells Source Type: research
Contents Vol. 83, 2017/2018
Hum Hered 2017/2018;83:I –IV (Source: Human Heredity)
Source: Human Heredity - June 28, 2019 Category: Genetics & Stem Cells Source Type: research
The Promise of Selecting Individuals from the Extremes of Exposure in the Analysis of Gene-Physical Activity Interactions
Conclusion: SIEE ’s promise appears limited to detecting loci with antagonistic effects. Further studies are needed to evaluate SIEE’s full advantage.Hum Hered 2017/2018;83:1 –18 (Source: Human Heredity)
Source: Human Heredity - June 5, 2019 Category: Genetics & Stem Cells Source Type: research
Subset-Based Analysis Using Gene-Environment Interactions for Discovery of Genetic Associations across Multiple Studies or Phenotypes
Conclusions: Our proposed method can be a useful screening tool to identify candidate single nucleotide polymorphisms that are potentially associated with the trait(s) of interest for further validation. It also allows researchers to determine the most probable subset of traits that exhibit genetic associations in addition to the enhancement of power.Hum Hered (Source: Human Heredity)
Source: Human Heredity - May 27, 2019 Category: Genetics & Stem Cells Source Type: research
Chromosomal Abnormalities in Patients with Intellectual Disability: A 21-Year Retrospective Study
Conclusion: The high rate of chromosomal abnormalities found in the Moroccan patients studied demonstrates the capital importance of cytogenetic evaluation in patients who show ID or any clinical development abnormality.Hum Hered 2017/2018;83:274 –282 (Source: Human Heredity)
Source: Human Heredity - May 7, 2019 Category: Genetics & Stem Cells Source Type: research
Two Powerful Tests for Parent-of-Origin Effects at Quantitative Trait Loci on the X Chromosome
Parent-of-origin effects, which describe an occurrence where the expression of a gene depends on its parental origin, are an important phenomenon in epigenetics. Statistical methods for detecting parent-of-origin effects on autosomes have been investigated for 20 years, but the development of statistical methods for detecting parent-of-origin effects on the X chromosome is relatively new. In the literature, a class of Q-XPAT-type tests are the only tests for the parent-of-origin effects for quantitative traits on the X chromosome. In this paper, we propose two simple and powerful classes of tests to detect parent-of-origin...
Source: Human Heredity - April 15, 2019 Category: Genetics & Stem Cells Source Type: research
47th European Mathematical Genetics Meeting (EMGM) 2019, Dublin, Ireland, April 8-9, 2019
Hum Hered 2017/2018;83:225 –249 (Source: Human Heredity)
Source: Human Heredity - April 4, 2019 Category: Genetics & Stem Cells Source Type: research
Weighted Transmission Disequilibrium Test for Family Trio Association Design
Conclusion: WTDT is not only efficiency robust to model mis-specifications but also efficiency robust against mis-specifications of risk allele.Hum Hered 2017/2018;83:196 –209 (Source: Human Heredity)
Source: Human Heredity - March 14, 2019 Category: Genetics & Stem Cells Source Type: research
