Processing Sanger DNA sequences remains a routine, yet technically demanding step in many biodiversity and ecological studies, particularly when barcoding large numbers of environmental samples. Manual inspection and editing of trace files, DNA sequence alignment and classification using taxonomic reference databases a...
Thomas Brekke, Thomas Weeks, Robert Barber et al.· Biodiversity Data Journal· 0 citations
variant-fm-benchmark 3.0.1: code, data and every output of the study "Evidence strength of splice-region variant effect predictors assessed against saturation genome editing data in seven cancer susceptibility genes" (N. Zhang), with one command that rebuilds every output from public sources and checks it against the a...
Ningyi Zhang· Zenodo (CERN European Organi...· 0 citations
Human genetic studies have identified key regulators of fetal haemoglobin (HbF) expression, including BCL11A, resulting in therapeutic advances1-8. Yet the mechanisms by which HbF expression is activated remain incompletely understood9. Here we conduct a large multi-ancestry genome-wide association study of HbF levels...
Chun-Jie Guo, U. Arora, Xiao-Heng Cheng et al.· Nature· 0 citations
GATA2 (GATA binding protein 2) deficiency is a severe immunodeficiency caused by heterozygous variants in the gene encoding the transcription factor GATA2. Ex vivo gene editing of a patient's own CD34+ hematopoietic stem and progenitor cells (HSPCs) could provide curative treatment. However, current methods that rely o...
J. H. Wolff, T. W. Skov, S. R. Dorset et al.· Science Translational Medici...· 0 citations
Beneficial microbes from soil or marine habitats are promising sources for discovery of new bioactive compounds for medicine and agriculture, largely through biosynthetic gene clusters (BGCs) that encode the production of complex natural products for drug and antibiotic discovery. However, most BGCs are transcriptional...
R. Santhoshkumar, Hafid Mohamed, M. Jemo· Frontiers in Microbiology· 0 citations
Non-obstructive azoospermia (NOA) represents the most severe male infertility. Although microsurgical testicular sperm extraction combined with intracytoplasmic sperm injection offers opportunities, approximately 50% of NOA patients still fail to obtain sperm for clinical treatments. Fortunately, the emergence of preci...
Man-Xi Jiang, Tao Jing, Huai L. Feng et al.· Frontiers in Genome Editing· 0 citations
Cell and gene therapies hold great promise for treating monogenic disorders, yet their preclinical evaluation remains limited by the lack of scalable, human-specific models. Here we establish a patient-derived teratoma xenograft platform as a proof-of-concept system to evaluate ex vivo and in vivo therapeutic strategie...
Mihn Jeong Park, H. Kim, Yuna Hwang et al.· Experimental and Molecular M...· 0 citations
Lack of Gba1 activity induced changes in the osteoclast model which enhanced its bone resorption potential, demonstrating a major intrinsic osteoclastic defect in Gaucher disease of bone.
J. Patiño-Salazar, J. D. Gutiérrez-Ávila, S. Heredero-Jiménez et al.· Calcified Tissue Internation...· 0 citations
The multi-line genetic and multi-omics evidence collectively confirms that SlSGR1 acts as a negative regulator of tomato cold adaptation via restraining JA-ICE-CBF signaling.
Liang Yang, Yan-Qin Ma, Yu-Jie Zhou et al.· Plant physiology and biochem...· 0 citations
Rooting depth underpins subsoil water capture and drought resilience in wheat, yet the regulators coupling root apical meristem (RAM) activity to vertical root growth remain largely unknown. We characterise Deep Root Suppressor 1 (TaDRS1; TraesCS7B01G400700), a transcriptional target of the yield-associated CONSTANS-li...
Yan Li, Jia-Yu Chen, Xin Li et al.· Plant, Cell and Environment· 0 citations
Zero-knowledge proofs can verify computing results without rerunning workloads or exposing sensitive data. Magnetar helps bring them into the mainstream with support for standard programming languages, major speed gains, and quantum-resistant security. The post Proof-based general-purpose computing with Magnetar appeared first on Microsoft Research.
Exploring how generative AI could make machine vision more accessible to businesses. The post GenEye in a Box: Making Machine Vision Something You Can Just Ask For appeared first on GPT-Lab.
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