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Despite considerable advances in identifying risk factors for obesity development, there remains substantial gaps in our knowledge about its etiology. Variation in obesity (defined by BMI) is thought to be due in part to heritable factors; however, obesity-associated genetic variants only account for a small portion of heritability. Epigenetic regulation, defined by genetic and/or environmental factors with changes in gene expression, may account for some of this "missing heritability".
View Article and Find Full Text PDFScrutinizing neurodegenerative diseases: decoding the complex genetic architectures through a multi-omics lens.
Hum Genomics
December 2024
Department of Clinical Neurosciences, 'Carol Davila' University of Medicine and Pharmacy, Bucharest, Romania.
Neurodegenerative diseases present complex genetic architectures, reflecting a continuum from monogenic to oligogenic and polygenic models. Recent advances in multi-omics data, coupled with systems genetics, have significantly refined our understanding of how these data impact neurodegenerative disease mechanisms. To contextualize these genetic discoveries, we provide a comprehensive critical overview of genetic architecture concepts, from Mendelian inheritance to the latest insights from oligogenic and omnigenic models.
View Article and Find Full Text PDFUnveiling the power of high-dimensional cytometry data with cyCONDOR.
Nat Commun
December 2024
Systems Medicine, German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.
Article Synopsis
- High-dimensional cytometry (HDC) is a cutting-edge technology for analyzing single-cell characteristics in complex biological systems, but existing analytical methods are often too complex for most lab scientists.
- Development of an analytical framework, cyCONDOR, aims to simplify the analysis process by offering comprehensive tools that cover essential steps from data preprocessing to biological interpretation.
- cyCONDOR enhances the analysis of HDC data with features like guided pre-processing, clustering, and advanced analytical tools, enabling researchers to gain deeper insights efficiently and apply findings in clinical settings.
A complex systems approach to mosaic loss of the Y chromosome.
Geroscience
December 2024
Academy of Biomedical Engineering, Kunming Medical University, Kunming, 650500, China.
Mosaic loss of Y chromosome (mLOY) is an acquired condition wherein a sizeable proportion of an organ's cells have lost their Y. Large-scale cohort studies have shown that mLOY is age-dependent and a strong risk factor for all-cause mortality and adverse outcomes of age-related diseases. Emerging multi-omics approaches that combine gene expression, epigenetic and mutational profiling of human LOY cell populations at single-cell levels, and contemporary work in in vitro cell and preclinical mouse models have provided important clues into how mLOY mechanistically contributes to disease onset and progression.
View Article and Find Full Text PDFLeveraging the power of long reads for targeted sequencing.
Genome Res
November 2024
Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA
Long-read sequencing technologies have improved the contiguity and, as a result, the quality of genome assemblies by generating reads long enough to span and resolve complex or repetitive regions of the genome. Several groups have shown the power of long reads in detecting thousands of genomic and epigenomic features that were previously missed by short-read sequencing approaches. While these studies demonstrate how long reads can help resolve repetitive and complex regions of the genome, they also highlight the throughput and coverage requirements needed to accurately resolve variant alleles across large populations using these platforms.
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