Evolutionary constraint and innovation across hundreds of placental mammals
Zoonomia is the largest comparative genomics resource for mammals produced to date. By
aligning genomes for 240 species, we identify bases that, when mutated, are likely to affect …
aligning genomes for 240 species, we identify bases that, when mutated, are likely to affect …
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 …
Selection on synonymous sites: the unwanted transcript hypothesis
Although translational selection to favour codons that match the most abundant tRNAs is not
readily observed in humans, there is nonetheless selection in humans on synonymous …
readily observed in humans, there is nonetheless selection in humans on synonymous …
Harmonized cross-species cell atlases of trigeminal and dorsal root ganglia
Sensory neurons in the dorsal root ganglion (DRG) and trigeminal ganglion (TG) are
specialized to detect and transduce diverse environmental stimuli to the central nervous …
specialized to detect and transduce diverse environmental stimuli to the central nervous …
[HTML][HTML] Transposable elements as tissue-specific enhancers in cancers of endodermal lineage
Transposable elements (TE) are repetitive genomic elements that harbor binding sites for
human transcription factors (TF). A regulatory role for TEs has been suggested in embryonal …
human transcription factors (TF). A regulatory role for TEs has been suggested in embryonal …
Jump-starting life: balancing transposable element co-option and genome integrity in the developing mammalian embryo
ME Oomen, ME Torres-Padilla - EMBO reports, 2024 - embopress.org
Remnants of transposable elements (TEs) are widely expressed throughout mammalian
embryo development. Originally infesting our genomes as selfish elements and acting as a …
embryo development. Originally infesting our genomes as selfish elements and acting as a …
Using a comprehensive atlas and predictive models to reveal the complexity and evolution of brain-active regulatory elements
Most genetic variants associated with psychiatric disorders are located in noncoding regions
of the genome. To investigate their functional implications, we integrate epigenetic data from …
of the genome. To investigate their functional implications, we integrate epigenetic data from …
DNAGPT: a generalized pretrained tool for multiple DNA sequence analysis tasks
The success of the GPT series proves that GPT can extract general information from
sequences, thereby benefiting all downstream tasks. This motivates us to use pre-trained …
sequences, thereby benefiting all downstream tasks. This motivates us to use pre-trained …
New ingredients for old recipes
The pancreas is an essential organ present in all vertebrates, and human pancreatic
agenesis is an extremely rare disorder of largely unknown genetic determinants. A study …
agenesis is an extremely rare disorder of largely unknown genetic determinants. A study …
Seeing humans through an evolutionary lens
IG Romero - Science, 2023 - science.org
One of the foundational aims of human genetics is understanding the genetic causes of
human traits, with a particular focus on disease. Two decades after the publication of the …
human traits, with a particular focus on disease. Two decades after the publication of the …