The combination of ultra-long (UL) Oxford Nanopore Technologies (ONT) sequencing reads with long, accurate Pacific Bioscience (PacBio) High Fidelity (HiFi) reads has enabled the completion of a human genome and spurred similar efforts to complete the genomes of many other species. However, this approach for complete, "telomere-to-telomere" genome assembly relies on multiple sequencing platforms, limiting its accessibility. ONT "Duplex" sequencing reads, where both strands of the DNA are read to improve quality, promise high per-base accuracy.
View Article and Find Full Text PDFDoulas, non-clinical companions trained to provide emotional, informational, and physical support throughout the pregnancy continuum, have emerged as cost-effective interventions to enhance maternal health. This article aims to review existing definitions, roles, outcomes, and theoretic frameworks surrounding doula support, culminating in the development of the Building Respectful Integrated Doula Support as a Gateway for Enhanced Maternal Health Outcomes and Experiences (BRIDGE) conceptual framework. The BRIDGE conceptual framework provides a comprehensive understanding of doula support and its potential to improve maternal health outcomes, underscoring the importance of integrating doula support into standard maternal health care practices.
View Article and Find Full Text PDFThe current reference genome is the backbone of diverse and rich annotations. Simple text formats, like VCF or BED, have been widely adopted and helped the critical exchange of genomic information. There is a dire need for tools and formats enabling pangenomic annotation to facilitate such enrichment of pangenomic references.
View Article and Find Full Text PDFWe created GNQA, a generative pre-trained transformer (GPT) knowledge base driven by a performant retrieval augmented generation (RAG) with a focus on aging, dementia, Alzheimer's and diabetes. We uploaded a corpus of three thousand peer reviewed publications on these topics into the RAG. To address concerns about inaccurate responses and GPT 'hallucinations', we implemented a context provenance tracking mechanism that enables researchers to validate responses against the original material and to get references to the original papers.
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