Knowing the answers, we used the GAW11 data set to compare the power and efficiency of discordant versus concordant affected sib pairs for qualitative traits at different levels of penetrance. Samples of 200 concordant sib pairs outperformed discordant sib pairs for low penetrance (40%) and 70% penetrance models while at 90% penetrance they performed equally well. Increasing the sample size of discordant sib pairs to twice that of concordant pairs was not enough to reach the power of concordant sib pairs at the 40% and 70% penetrance models. For low penetrance using a combination of concordant and discordant sib pairs resulted in higher power than using discordant sib pairs alone. At 90% penetrance, the power of concordant and discordant sib pairs was similar in the region close to the gene while concordant sib pairs performed better at locations further from the gene.
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http://dx.doi.org/10.1002/gepi.13701707111 | DOI Listing |
PLoS One
January 2025
Department of Genetics, National Institute of Medical Sciences and Nutrition Salvador Zubirán (INCMNSZ), Mexico City, Mexico.
Myelomeningocele (MMC) is the most severe and disabling form of spina bifida with chronic health multisystem complications and social and economic family and health systems burden. In the present study, we aimed to investigate the genetic risk estimate for MMC in a cohort of 203 Mexican nuclear families with discordant siblings for the defect. Utilizing a custom Illumina array, we analyzed 656 single nucleotide polymorphisms (SNPs) of 395 candidate genes to identify a polygenic risk profile for MMC.
View Article and Find Full Text PDFSheng Wu Gong Cheng Xue Bao
December 2024
College of Fisheries, Guangdong Ocean University, Zhanjiang 524088, Guangdong, China.
To clarify the genetic diversity and structure of the nucleus population of F1-generation , this study utilized 15 pairs of highly polymorphic microsatellite primers to analyze the simple sequence repeat (SSR) markers and genetic diversity in 15 full-sib families of . . A total of 112 alleles () and 60.
View Article and Find Full Text PDFBioinformatics
December 2024
Institute of Bioengineering, School of Life Sciences, École Polytechnique Fédérale de Lausanne (EPFL), Lausanne CH-1015, Switzerland.
Motivation: Identifying interacting partners from two sets of protein sequences has important applications in computational biology. Interacting partners share similarities across species due to their common evolutionary history, and feature correlations in amino acid usage due to the need to maintain complementary interaction interfaces. Thus, the problem of finding interacting pairs can be formulated as searching for a pairing of sequences that maximizes a sequence similarity or a coevolution score.
View Article and Find Full Text PDFNucleic Acids Res
January 2025
Bioinformatics Group, Wageningen University & Research, Droevendaalsesteeg 1, 6708 PB Wageningen, The Netherlands.
Specialized or secondary metabolites are small molecules of biological origin, often showing potent biological activities with applications in agriculture, engineering and medicine. Usually, the biosynthesis of these natural products is governed by sets of co-regulated and physically clustered genes known as biosynthetic gene clusters (BGCs). To share information about BGCs in a standardized and machine-readable way, the Minimum Information about a Biosynthetic Gene cluster (MIBiG) data standard and repository was initiated in 2015.
View Article and Find Full Text PDFSci Rep
November 2024
Department of Biostatistics, School of Public Health, Modeling of Noncommunicable Diseases Research Center, Hamadan University of Medical Sciences, Shahid Fahmideh Boulevard, Hamadan, Iran.
The study aimed to identify risk factors for childhood wasting in 1-2 year-olds in Hamadan city, focusing on this age group due to infection and malnutrition risks. Unlike previous cross-sectional studies on children under 5 years old, this longitudinal study tracked weight-to-height changes over time. Data were analyzed from 455 mother-child pairs, aged 1-2 years, collected from health centers and recorded in the Integrated Electronic Health System (SIB).
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