Artificial intelligence in molecular medicine

B Gomes, EA Ashley - New England Journal of Medicine, 2023 - Mass Medical Soc
Artificial Intelligence in Molecular Medicine | New England Journal of Medicine Skip to main
content The New England Journal of Medicine homepage Advanced Search SEARCH …

Regulation of pre-mRNA splicing: roles in physiology and disease, and therapeutic prospects

ME Rogalska, C Vivori, J Valcárcel - Nature Reviews Genetics, 2023 - nature.com
The removal of introns from mRNA precursors and its regulation by alternative splicing are
key for eukaryotic gene expression and cellular function, as evidenced by the numerous …

A guide for the diagnosis of rare and undiagnosed disease: beyond the exome

S Marwaha, JW Knowles, EA Ashley - Genome medicine, 2022 - Springer
Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …

CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores

P Rentzsch, M Schubach, J Shendure, M Kircher - Genome medicine, 2021 - Springer
Background Splicing of genomic exons into mRNAs is a critical prerequisite for the accurate
synthesis of human proteins. Genetic variants impacting splicing underlie a substantial …

Ensembl 2021

KL Howe, P Achuthan, J Allen, J Allen… - Nucleic acids …, 2021 - academic.oup.com
Abstract The Ensembl project (https://www. ensembl. org) annotates genomes and
disseminates genomic data for vertebrate species. We create detailed and comprehensive …

A complete reference genome improves analysis of human genetic variation

S Aganezov, SM Yan, DC Soto, M Kirsche, S Zarate… - Science, 2022 - science.org
Compared to its predecessors, the Telomere-to-Telomere CHM13 genome adds nearly 200
million base pairs of sequence, corrects thousands of structural errors, and unlocks the most …

Evidence for 28 genetic disorders discovered by combining healthcare and research data

J Kaplanis, KE Samocha, L Wiel, Z Zhang, KJ Arvai… - Nature, 2020 - nature.com
De novo mutations in protein-coding genes are a well-established cause of developmental
disorders. However, genes known to be associated with developmental disorders account …

Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer's disease risk genes

J Schwartzentruber, S Cooper, JZ Liu… - Nature …, 2021 - nature.com
Genome-wide association studies have discovered numerous genomic loci associated with
Alzheimer's disease (AD); yet the causal genes and variants are incompletely identified. We …

Analysis of large-language model versus human performance for genetics questions

D Duong, BD Solomon - European Journal of Human Genetics, 2024 - nature.com
Large-language models like ChatGPT have recently received a great deal of attention. One
area of interest pertains to how these models could be used in biomedical contexts …

Identification of LZTFL1 as a candidate effector gene at a COVID-19 risk locus

DJ Downes, AR Cross, P Hua, N Roberts… - Nature …, 2021 - nature.com
The severe acute respiratory syndrome coronavirus 2 (SARS‑CoV‑2) disease (COVID-19)
pandemic has caused millions of deaths worldwide. Genome-wide association studies …