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Biochemistry, Genetics and Molecular Biology
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Genetics
Genetics
The study of heredity and genetic variation, including molecular genetics, population genetics, genomics, epigenetics, genetic engineering, and the genetic basis of traits, evolution, and disease
9 papers in this specialization
Papers
Is sex at birth a biological coin toss? Insights from a longitudinal and GWAS analysis
This study found that offspring sex at birth doesn't follow a simple coin toss probability within families, with children's sex clustering more than expected. Maternal age at first birth and genetics are linked to having single-sex offspring, suggesting both biological and behavioral factors are involved.
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sciadv.adu7402.pdf
Jul 19, 12:26 PM
Dismantling a dogma: the inflated significance of neutral genetic diversity in conservation genetics
The paper argues that neutral genetic diversity is an insufficient indicator for conservation efforts and proposes that focusing on functional genetic diversity, demographic history, and ecological relationships is more crucial. It suggests that the relationship between neutral diversity, functional diversity, and fitness is complex and often unintuitive, advocating for precise mapping of adaptive genetic variation and better understanding of mutation load.
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2007.02569.pdf
Jul 14, 05:22 PM
A saturated map of common genetic variants associated with human height
Using a genome-wide association study of 5.4 million individuals, researchers identified 12,111 independent SNPs associated with height, accounting for almost all common SNP-based heritability. These SNPs cluster within specific genomic regions covering ~21% of the genome, with higher density regions enriched for genes related to skeletal growth. Prediction accuracy is high in European populations but lower in other ancestries, suggesting the need for greater diversity in future studies.
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s41586-022-05275-y.pdf
Jul 14, 05:19 PM
Exome sequencing and analysis of 454,787 UK Biobank participants
This study analyzed exome sequencing data from 454,787 UK Biobank participants, identifying over 12 million coding variants and finding 564 genes associated with nearly 500 health-related traits. Most of these associations were independent of common variant signals found in genome-wide association studies, highlighting the potential of exome sequencing to pinpoint rare variants that influence disease risk and other traits.
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s41586-021-04103-z.pdf
Jul 14, 05:07 PM
Plasma proteomic associations with genetics and health in the UK Biobank
This study analyzed the plasma proteome of over 54,000 UK Biobank participants, identifying thousands of genetic variations linked to blood protein levels. Many of these variations are novel and implicate genes in key biological pathways relevant to disease, potentially accelerating drug discovery and personalized medicine.
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s41586-023-06592-6.pdf
Jul 14, 05:07 PM
Gene regulation by gonadal hormone receptors underlies brain sex differences
Estrogen receptor alpha (ERa) orchestrates sexual differentiation in the mouse brain by establishing male-biased neuron types and activating a sustained male-biased gene expression program. Sex differences in gene expression are primarily driven by hormonal activation of neuronal steroid receptors, with puberty acting as a critical period for sexual differentiation.
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s41586-022-04686-1.pdf
Jul 14, 10:31 AM
Can functional foods reduce the risk of disease? Advancement of functional food definition and steps to create functional food products
The paper proposes an updated definition of functional foods emphasizing their role in promoting optimal health, reducing disease risk, and managing symptoms. It outlines a 14-step process for developing functional food products and advocates for the recognition of 'functional food science' as a distinct field.
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1416.pdf
Jul 14, 10:31 AM
MOLECULAR BIOLOGY OF THE CELL
This book covers the molecular biology of the cell and is intended for students in medical and biological fields. It covers topics like epigenetics, transcription factors, cell signaling pathways, and tumor molecular biology.
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32998.pdf
Jul 14, 10:31 AM
GAPIT Version 3: Boosting Power and Accuracy for Genomic Association and Prediction
GAPIT 3 enhances genomic analysis by implementing multiple loci tests (MLMM, FarmCPU, BLINK) for GWAS, improving power and speed. It also introduces compressed BLUP and SUPER BLUP for genomic prediction, catering to different trait architectures and heritability levels. Interactive visualizations and detailed reports further aid in data interpretation and method selection.
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2020.11.29.403170.full.pdf
Jul 14, 10:31 AM
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