Genetic Diagnosis and Discovery Enabled by Large Language Models
We demonstrate that large language models (LLMs) can facilitate genetic diagnosis and discovery. LLMs were used to solve four types of genetic problems of sequentially increased complexity. An LLM‐based pipeline could analyze genetic variants in the genomic sequences of human hearing loss or rare genetic disease patients and assist in identifying ...
Tao Tu +25 more
wiley +1 more source
Introducing an integrated maternity care pathway for women with a history of small-for-gestational-age: Evaluation of its effect on care process and clinical outcomes. [PDF]
Hermans ACM +6 more
europepmc +1 more source
cuteHap: Haplotype‐Aware Structural Variant Detection in Phased Long‐Read Sequencing Data
cuteHap is a haplotype‐aware structural variant detection method designed for phased long‐read sequencing. By employing self‐adaptive clustering and credibility‐prioritized beam search algorithms, cuteHap generates accurate haplotype‐resolved calls and outperforms state‐of‐the‐art tools.
Shuqi Cao +7 more
wiley +1 more source
An Exploration of Maternal Health Care Providers' Perspectives on Respectful Maternity Care in the United States: A Scoping Review Protocol. [PDF]
Ofori-Parku CY.
europepmc +1 more source
Cellular Identity Crisis: RD3 Loss Fuels Plasticity and Immune Silence in Progressive Neuroblastoma
Researchers discovered that therapy‐induced loss of RD3 protein in neuroblastoma triggers a dangerous shift: cancer cells become more stem‐like, invasive, and resistant to treatment while evading immune detection. RD3 loss suppresses antigen presentation and boosts immune checkpoints, creating an immune‐silent environment.
Poorvi Subramanian +7 more
wiley +1 more source
Effectiveness of a respectful maternity care program in a Guatemalan indigenous region rural hospital: a quasi-experimental study. [PDF]
Ikezoe H, Horiuchi S, Girón M.
europepmc +1 more source
Prenatal dexamethasone exposure (PDE) programs persistent podocyte developmental injury and adult glomerulosclerosis. Mechanistically, glucocorticoid receptor (GR) binds the miR‐135a‐5p promoter and recruits the histone acetyltransferase p300, increasing promoter histone acetylation and sustaining miR‐135a‐5p expression. Elevated miR‐135a‐5p suppresses
Xiaoqi Zhao +8 more
wiley +1 more source
Respectful maternity care experiences of South Asian refugees in the US: a qualitative study. [PDF]
Smith DC, Thumm EB, Tien NCG, Kissler K.
europepmc +1 more source

