[HTML][HTML] Will variants of uncertain significance still exist in 2030?

DM Fowler, HL Rehm - The American Journal of Human Genetics, 2024 - cell.com
Summary In 2020, the National Human Genome Research Institute (NHGRI) made ten" bold
predictions," including that" the clinical relevance of all encountered genomic variants will be …

Harnessing deep learning for population genetic inference

X Huang, A Rymbekova, O Dolgova, O Lao… - Nature Reviews …, 2024 - nature.com
In population genetics, the emergence of large-scale genomic data for various species and
populations has provided new opportunities to understand the evolutionary forces that drive …

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 …

A global catalog of whole-genome diversity from 233 primate species

LFK Kuderna, H Gao, MC Janiak, M Kuhlwilm, JD Orkin… - Science, 2023 - science.org
The rich diversity of morphology and behavior displayed across primate species provides an
informative context in which to study the impact of genomic diversity on fundamental …

Machine learning-guided co-optimization of fitness and diversity facilitates combinatorial library design in enzyme engineering

K Ding, M Chin, Y Zhao, W Huang, BK Mai… - Nature …, 2024 - nature.com
The effective design of combinatorial libraries to balance fitness and diversity facilitates the
engineering of useful enzyme functions, particularly those that are poorly characterized or …

Identification of constrained sequence elements across 239 primate genomes

LFK Kuderna, JC Ulirsch, S Rashid, M Ameen… - Nature, 2024 - nature.com
Noncoding DNA is central to our understanding of human gene regulation and complex
diseases,, and measuring the evolutionary sequence constraint can establish the functional …

Rare penetrant mutations confer severe risk of common diseases

PP Fiziev, J McRae, JC Ulirsch, JS Dron, T Hamp… - Science, 2023 - science.org
We examined 454,712 exomes for genes associated with a wide spectrum of complex traits
and common diseases and observed that rare, penetrant mutations in genes implicated by …

A foundational large language model for edible plant genomes

J Mendoza-Revilla, E Trop, L Gonzalez… - Communications …, 2024 - nature.com
Significant progress has been made in the field of plant genomics, as demonstrated by the
increased use of high-throughput methodologies that enable the characterization of multiple …

Applications of artificial intelligence in clinical laboratory genomics

S Aradhya, FM Facio, H Metz, T Manders… - American Journal of …, 2023 - Wiley Online Library
The transition from analog to digital technologies in clinical laboratory genomics is ushering
in an era of “big data” in ways that will exceed human capacity to rapidly and reproducibly …

Biomedical data science, artificial intelligence, and ethics: navigating challenges in the face of explosive growth

CA Federico, AA Trotsyuk - Annual Review of Biomedical Data …, 2024 - annualreviews.org
Advances in biomedical data science and artificial intelligence (AI) are profoundly changing
the landscape of healthcare. This article reviews the ethical issues that arise with the …