Transforming Summary Statistics from Logistic Regression to the Liability Scale: Application to Genetic and Environmental Risk Scores
Conclusion: This straightforward method allows the conversion of model parameters between the logit and liability scales and may be a key tool to integrate risk estimates into a comprehensive risk model, particularly for joint models with environmental and genetic risk factors.Hum Hered 2017/2018;83:210 –224 (Source: Human Heredity)
Source: Human Heredity - March 14, 2019 Category: Genetics & Stem Cells Source Type: research
A Family-Based Rare Haplotype Association Method for Quantitative Traits
Conclusion: FamQBL can help uncover rHTVs associated with quantitative traits.Hum Hered 2017/2018;83:175 –195 (Source: Human Heredity)
Source: Human Heredity - February 21, 2019 Category: Genetics & Stem Cells Source Type: research
Title Page/Table of Contents
Hum Hered 2017/2018;83:101 –104 (Source: Human Heredity)
Source: Human Heredity - February 20, 2019 Category: Genetics & Stem Cells Source Type: research
Author Index/Subject Index, Vol. 83, No. 3, 2017/2018
Hum Hered 2017/2018;83:173 (Source: Human Heredity)
Source: Human Heredity - February 20, 2019 Category: Genetics & Stem Cells Source Type: research
tRNA-DL: A Deep Learning Approach to Improve tRNAscan-SE Prediction Results
Conclusion: The proposed deep learning methods can substantially reduce the false positive output by the state-of-the-art tool tRNAscan-SE. Coupled with tRNAscan-SE, it can serve as a useful complementary tool for tRNA annotation. The application to tRNA prediction demonstrates the superiority of deep learning in automatic feature generation for characterizing sequence patterns.Hum Hered 2017/2018;83:163 –172 (Source: Human Heredity)
Source: Human Heredity - January 27, 2019 Category: Genetics & Stem Cells Source Type: research
Inferring Gene-Disease Association by an Integrative Analysis of eQTL Genome-Wide Association Study and Protein-Protein Interaction Data
Conclusions: We built a unified statistical model to predict disease-related genes by integrating GWAS, eQTL, and PPI data. Our approach outperforms Sherlock, COLOC, and NetWAS in simulation studies and 9 GWAS datasets. Our approach can be generalized to incorporate other molecular trait data beyond eQTL and other interaction data beyond PPI.Hum Hered 2017/2018;83:117 –129 (Source: Human Heredity)
Source: Human Heredity - January 22, 2019 Category: Genetics & Stem Cells Source Type: research
Genetic-Epigenetic Interactions in Asthma Revealed by a Genome-Wide Gene-Centric Search
Conclusions: Joint effects of genetic and epigenetic variation may play an important role in asthma pathogenesis. Statistical methods that simultaneously account for multiple variations across chromosomal regions may be needed to detect these types of effects on a genome-wide scale.Hum Hered 2017/2018;83:130 –152 (Source: Human Heredity)
Source: Human Heredity - January 22, 2019 Category: Genetics & Stem Cells Source Type: research
Comparison of SureSelect and Nextera Exome Capture Performance in Single-Cell Sequencing
Conclusions: Our results suggest that AGL can also be used for scWES when there is sufficient DNA, and it yields better data quality than the current Fluidigm ’s protocol using NXT.Hum Hered 2017/2018;83:153 –162 (Source: Human Heredity)
Source: Human Heredity - January 22, 2019 Category: Genetics & Stem Cells Source Type: research
Comprehensive Assessment of Genotype Imputation Performance
Genotype imputation is a process of estimating missing ge notypes from the haplotype or genotype reference panel. It can effectively boost the power of detecting single nucleotide polymorphisms (SNPs) in genome-wide association studies, integrate multi-studies for meta-analysis, and be applied in fine-mapping studies. The performance of genotype imputati on is affected by many factors, including software, reference selection, sample size, and SNP density/sequencing coverage. A systematical evaluation of the imputation performance of current popular software will benefit future studies. Here, we evaluate imputation perfor...
Source: Human Heredity - January 22, 2019 Category: Genetics & Stem Cells Source Type: research
Next-Generation Sequencing in Human Genetic Studies: Genome Technologies and Applications to Human Genetic Studies
Hum Hered 2017/2018;83:105 –106 (Source: Human Heredity)
Source: Human Heredity - January 13, 2019 Category: Genetics & Stem Cells Source Type: research
Contribution of Inbred Singletons to Variance Component Estimation of Heritability and Linkage
Conclusions: Inbred individuals, even in isolation from other members of a sample, can contribute to variance component estimation and tests of heritability and linkage. Under certain conditions, the informativeness of the inbred singleton can approach that of a non-inbred sib pair.Hum Hered 2017/2018;83:92 –99 (Source: Human Heredity)
Source: Human Heredity - November 2, 2018 Category: Genetics & Stem Cells Source Type: research
Novel Neural Network Approach to Predict Drug-Target Interactions Based on Drug Side Effects and Genome-Wide Association Studies
Conclusion: Taken together, we conclude that our approach is able to generate a novel and clinically applicable insight into the molecular determinants of drug action.Hum Hered 2017/2018;83:79 –91 (Source: Human Heredity)
Source: Human Heredity - October 24, 2018 Category: Genetics & Stem Cells Source Type: research
Frequency of Inborn Errors of Metabolism in a Northeastern Iranian Sample with High Consanguinity Rates
Conclusion: This study found a greater frequency of metabolic diseases in offspring of consanguineous parents than in those of non-consanguineous parents in a population with a high rate of consanguinity.Hum Hered 2017 –18;83:71–78 (Source: Human Heredity)
Source: Human Heredity - July 23, 2018 Category: Genetics & Stem Cells Source Type: research
Lung Cancer: One Disease or Many
Conclusion: This paper highlights that these 3 lung cancer subtypes may be distinct diseases at the genetic level. In the era of precision medicine, we feel that these genomic differences will be of utmost importance in the choice of lung cancer therapy in the future.Hum Hered 2017 –18;83:65–70 (Source: Human Heredity)
Source: Human Heredity - June 4, 2018 Category: Genetics & Stem Cells Source Type: research
Prevalence and Molecular Study of G6PD Deficiency in the Dai and Jingpo Ethnic Groups in the Dehong Prefecture of the Yunnan Province
Conclusions: The Dai and Jingpo ethnic groups have distinctive incidence rates and gene frequencies of G6PD deficiency, and the genotypes of G6PD deficiency are associated with erythrocyte phenotypes.Hum Hered 2017 –18;83:55–64 (Source: Human Heredity)
Source: Human Heredity - June 1, 2018 Category: Genetics & Stem Cells Source Type: research
