Browse research papers in Genetics - Biochemistry, Genetics and Molecular Biology Discover 21 academic papers with AI-powered analysis

Challenges in structural variant calling in low-complexity regions

This paper highlights that structural variants (SVs) are notoriously difficult to detect accurately in low-complexity regions (LCRs) of the human genome, even with advanced long-read sequencing. While LCRs make up a small fraction of the genome, they harbor a disproportionately high percentage of confident SVs and are where the vast majority of SV calling errors occur. The study, based on a single human sample, underscores the critical need for specialized algorithms and careful analysis in these problematic genomic areas.

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paper_2068.pdf

Sep 30, 05:36 AM

1206 genomes reveal origin and movement of Aedes aegypti driving increased dengue risk

This study analyzed 1206 genomes of Aedes aegypti mosquitoes, revealing that the invasive subspecies (Aaa) likely emerged in the Americas after the Atlantic slave trade and spread globally. The research also highlights contemporary admixture between Aaa and the ancestral African subspecies (Aaf), including the sharing of insecticide-resistance mutations, posing a threat to dengue control efforts in Africa.

Resolving out of Africa event for Papua New Guinean population using neural network

This study uses genomic data and simulations to challenge the previous idea that the Papua New Guinean population's unique genetic makeup comes from an extremely early migration out of Africa. Instead, they find a strong population bottleneck and slower growth are the primary reasons for the observed differences, suggesting PNG people are closely related to East Asians.

Finding low-complexity DNA sequences with longdust

This paper introduces Longdust, a new algorithm for efficiently identifying long, repetitive DNA sequences (low-complexity DNA). These sequences are often associated with errors in DNA analysis. Longdust is faster and handles longer repeats better than previous methods.

Assessing temporal and geographic contacts across the Adriatic Sea through the analysis of genome-wide data from Southern Italy

This study analyzes genome-wide data from over 700 individuals around the South Mediterranean, including 102 from Southern Italy, combined with ancient DNA. The findings show close genetic ties between Southern Italians and Eastern Peloponnesians, suggesting interactions predating recent migrations. Some Southern Italians also exhibit a unique genetic component potentially linked to Bronze Age migrations from the Caucasus.

Ancient genomics support deep divergence between Eastern and Western Mediterranean Indo-European languages

This study used ancient DNA from 314 individuals, along with existing data, to investigate the spread of Indo-European languages around the Mediterranean. They found distinct genetic patterns in the west and east, suggesting different migration routes for language families like Italo-Celtic and Graeco-Armenian. This suggests that the ancestors of Greek and Armenian speakers arrived directly from Yamnaya groups to the east, while those in Western Europe had Bell Beaker ancestry.

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.

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.

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.

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.

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

Genetics

Paperzilla Papers in Genetics

Challenges in structural variant calling in low-complexity regions

1206 genomes reveal origin and movement of Aedes aegypti driving increased dengue risk

Resolving out of Africa event for Papua New Guinean population using neural network

Finding low-complexity DNA sequences with longdust

Assessing temporal and geographic contacts across the Adriatic Sea through the analysis of genome-wide data from Southern Italy

Ancestry-inclusive dog genomics challenges popular breed stereotypes

On the genetic architecture of intelligence and other quantitative traits

Tracing the stepwise Darwinian evolution of a plant halogenase

Unveiling the complexity of post-Roman polity formation using ancient DNA

Unlocking the full potential of Oxford Nanopore reads with NOVOLoci

Complete sequencing of ape genomes

Ancient genomics support deep divergence between Eastern and Western Mediterranean Indo-European languages

Is sex at birth a biological coin toss? Insights from a longitudinal and GWAS analysis

Dismantling a dogma: the inflated significance of neutral genetic diversity in conservation genetics

A saturated map of common genetic variants associated with human height

Exome sequencing and analysis of 454,787 UK Biobank participants

Plasma proteomic associations with genetics and health in the UK Biobank

Gene regulation by gonadal hormone receptors underlies brain sex differences

Can functional foods reduce the risk of disease? Advancement of functional food definition and steps to create functional food products

MOLECULAR BIOLOGY OF THE CELL

GAPIT Version 3: Boosting Power and Accuracy for Genomic Association and Prediction