Artificial intelligence in molecular medicine
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Regulation of pre-mRNA splicing: roles in physiology and disease, and therapeutic prospects
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 …
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
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 …
worldwide, often causing chronic illness, disability, and premature death. Traditional …
CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores
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 …
synthesis of human proteins. Genetic variants impacting splicing underlie a substantial …
Ensembl 2021
Abstract The Ensembl project (https://www. ensembl. org) annotates genomes and
disseminates genomic data for vertebrate species. We create detailed and comprehensive …
disseminates genomic data for vertebrate species. We create detailed and comprehensive …
A complete reference genome improves analysis of human genetic variation
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 …
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
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 …
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 …
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 …
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
The severe acute respiratory syndrome coronavirus 2 (SARS‑CoV‑2) disease (COVID-19)
pandemic has caused millions of deaths worldwide. Genome-wide association studies …
pandemic has caused millions of deaths worldwide. Genome-wide association studies …