Schizophrenia genomics: genetic complexity and functional insights
Determining the causes of schizophrenia has been a notoriously intractable problem,
resistant to a multitude of investigative approaches over centuries. In recent decades …
resistant to a multitude of investigative approaches over centuries. In recent decades …
The chromosome folding problem and how cells solve it
Every cell must solve the problem of how to fold its genome. We describe how the folded
state of chromosomes is the result of the combined activity of multiple conserved …
state of chromosomes is the result of the combined activity of multiple conserved …
CADD v1. 7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions
M Schubach, T Maass, L Nazaretyan… - Nucleic acids …, 2024 - academic.oup.com
Abstract Machine Learning-based scoring and classification of genetic variants aids the
assessment of clinical findings and is employed to prioritize variants in diverse genetic …
assessment of clinical findings and is employed to prioritize variants in diverse genetic …
Leveraging base-pair mammalian constraint to understand genetic variation and human disease
Thousands of genomic regions have been associated with heritable human diseases, but
attempts to elucidate biological mechanisms are impeded by an inability to discern which …
attempts to elucidate biological mechanisms are impeded by an inability to discern which …
Single-fly genome assemblies fill major phylogenomic gaps across the Drosophilidae Tree of Life
Long-read sequencing is driving rapid progress in genome assembly across all major
groups of life, including species of the family Drosophilidae, a longtime model system for …
groups of life, including species of the family Drosophilidae, a longtime model system for …
The contribution of historical processes to contemporary extinction risk in placental mammals
Species persistence can be influenced by the amount, type, and distribution of diversity
across the genome, suggesting a potential relationship between historical demography and …
across the genome, suggesting a potential relationship between historical demography and …
Mammalian evolution of human cis-regulatory elements and transcription factor binding sites
Understanding the regulatory landscape of the human genome is a long-standing objective
of modern biology. Using the reference-free alignment across 241 mammalian genomes …
of modern biology. Using the reference-free alignment across 241 mammalian genomes …
Identification of constrained sequence elements across 239 primate genomes
Noncoding DNA is central to our understanding of human gene regulation and complex
diseases,, and measuring the evolutionary sequence constraint can establish the functional …
diseases,, and measuring the evolutionary sequence constraint can establish the functional …
Three-dimensional genome rewiring in loci with human accelerated regions
Human accelerated regions (HARs) are conserved genomic loci that evolved at an
accelerated rate in the human lineage and may underlie human-specific traits. We …
accelerated rate in the human lineage and may underlie human-specific traits. We …
[HTML][HTML] The evolution of aging and lifespan
S Li, JM Vazquez, PH Sudmant - Trends in Genetics, 2023 - cell.com
Aging is a nearly inescapable trait among organisms yet lifespan varies tremendously
across different species and spans several orders of magnitude in vertebrates alone. This …
across different species and spans several orders of magnitude in vertebrates alone. This …