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Healix BioLabs is an explainable real-time genomic intelligence platform designed for breast cancer risk prediction using AI-driven genomic inference. Built using the GSE42568 NCBI GEO benchmark dataset, Healix operationalizes breast cancer genomic classificat…
datacite
Verma, Avnish
2026
置信度 0.66
Breast Cancer, Genomics, Explainable AI, Precision Oncology, Bioinformatics, Machine Learning, Translational Medicine, Clinical AI, Random Forest, Genomic Intelligence
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This is a ClinGen Criteria Specification approved by the ClinGen Clinical Domain Working Group Oversight Committee and the ClinGen Variant Curation Expert Panel Review Committee. Usage subject to the Clinical Genome Resource's Terms of Use (https://clinicalgen…
datacite
Glaucoma Variant Curation Expert Panel
2026
置信度 0.66
humanbiologygenomicsvariantvariant classification
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This is a ClinGen Criteria Specification approved by the ClinGen Clinical Domain Working Group Oversight Committee and the ClinGen Variant Curation Expert Panel Review Committee. Usage subject to the Clinical Genome Resource's Terms of Use (https://clinicalgen…
datacite
Glaucoma Variant Curation Expert Panel
2026
置信度 0.66
humanbiologygenomicsvariantvariant classification
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viral-pipelines A set of scripts and tools for the analysis of viral NGS data. Workflows are written in WDL format. This is a portable workflow language that allows for easy execution on a wide variety of platforms: on individual machines (using miniWDL or Cro…
datacite
Broad Viral Genomics
2026
置信度 0.66
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This is a ClinGen Criteria Specification approved by the ClinGen Clinical Domain Working Group Oversight Committee and the ClinGen Variant Curation Expert Panel Review Committee. Usage subject to the Clinical Genome Resource's Terms of Use (https://clinicalgen…
datacite
RASopathy Variant Curation Expert Panel
2024
置信度 0.66
humanbiologygenomicsvariantvariant classification
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This is a ClinGen Criteria Specification approved by the ClinGen Clinical Domain Working Group Oversight Committee and the ClinGen Variant Curation Expert Panel Review Committee. Usage subject to the Clinical Genome Resource's Terms of Use (https://clinicalgen…
datacite
RASopathy Variant Curation Expert Panel
2024
置信度 0.66
humanbiologygenomicsvariantvariant classification
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The Recent African Origin (RAO) model posits that Homo sapiens dispersed from Africa into Eurasia via the Sinai land bridge during the late Pleistocene—a narrative that places the LGM North Africa Death Zone at the very center of the human origin story. This p…
datacite
Zhang, Jing
2026
置信度 0.66
Recent African Origin (RAO)Last Glacial Maximum (LGM)Sinai land bridge; glacial biogeographyLSED triple-lock frameworkmammoth-woolly rhino southern limit
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The Recent African Origin (RAO) model posits that Homo sapiens dispersed from Africa into Eurasia via the Sinai land bridge during the late Pleistocene—a narrative that places the LGM North Africa Death Zone at the very center of the human origin story. This p…
datacite
Zhang, Jing
2026
置信度 0.66
Recent African Origin (RAO)Last Glacial Maximum (LGM)Sinai land bridge; glacial biogeographyLSED triple-lock frameworkmammoth-woolly rhino southern limit
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viral-pipelines A set of scripts and tools for the analysis of viral NGS data. Workflows are written in WDL format. This is a portable workflow language that allows for easy execution on a wide variety of platforms: on individual machines (using miniWDL or Cro…
datacite
Broad Viral Genomics
2026
置信度 0.66
-
viral-pipelines A set of scripts and tools for the analysis of viral NGS data. Workflows are written in WDL format. This is a portable workflow language that allows for easy execution on a wide variety of platforms: on individual machines (using miniWDL or Cro…
datacite
Broad Viral Genomics
2026
置信度 0.66
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This is a ClinGen Criteria Specification approved by the ClinGen Clinical Domain Working Group Oversight Committee and the ClinGen Variant Curation Expert Panel Review Committee. Usage subject to the Clinical Genome Resource's Terms of Use (https://clinicalgen…
datacite
Rett and Angelman-like Disorders Variant Curation Expert Panel
2026
置信度 0.66
humanbiologygenomicsvariantvariant classification
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Medicinal chemistry---the discipline that turns molecules into medicines---moved from Ehrlich's magic bullet and Albert's selective toxicity through Hansch's quantitative structure-activity revolution to the druggable genome's genomics, the network pharmacolog…
datacite
Revista, Zen, CHEMISTRY, 10
2026
置信度 0.66
medicinal chemistrydrug discoveryQSARselective toxicitydruggable genome
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Medicinal chemistry---the discipline that turns molecules into medicines---moved from Ehrlich's magic bullet and Albert's selective toxicity through Hansch's quantitative structure-activity revolution to the druggable genome's genomics, the network pharmacolog…
datacite
Revista, Zen, CHEMISTRY, 10
2026
置信度 0.66
medicinal chemistrydrug discoveryQSARselective toxicitydruggable genome
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This poster presents a modular Python pipeline for the automated extraction, and FAIR-compliant packaging of sequencing metadata. The pipeline performs content-based file detection, metadata harmonisation, sample provenance reconstruction, and generates RO-Cra…
datacite
TSOPTIO FOUGANG, Lesly, PIOMPONI, Valerio, AFFINITO, ORNELLA
2026
置信度 0.66
Metadata extractionGenomicsFAIR dataData managementRo-crate
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This poster presents a modular Python pipeline for the automated extraction, and FAIR-compliant packaging of sequencing metadata. The pipeline performs content-based file detection, metadata harmonisation, sample provenance reconstruction, and generates RO-Cra…
datacite
TSOPTIO FOUGANG, Lesly, PIOMPONI, Valerio, AFFINITO, ORNELLA
2026
置信度 0.66
Metadata extractionGenomicsFAIR dataData managementRo-crate
-
Description Genetic Architecture of Hereditary Colorectal Cancer is an evidence-informed review examining the genetic basis of inherited colorectal cancer susceptibility and the molecular mechanisms underlying hereditary colorectal cancer syndromes. The review…
datacite
Qaiser, Dr. Zeeshan
2026
置信度 0.66
Hereditary Colorectal CancerColorectal Cancer GeneticsCancer Pain/geneticsCancer Vaccines/geneticsCancer Genetics
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Description Genetic Architecture of Hereditary Colorectal Cancer is an evidence-informed review examining the genetic basis of inherited colorectal cancer susceptibility and the molecular mechanisms underlying hereditary colorectal cancer syndromes. The review…
datacite
Qaiser, Dr. Zeeshan
2026
置信度 0.66
Hereditary Colorectal CancerColorectal Cancer GeneticsCancer Pain/geneticsCancer Vaccines/geneticsCancer Genetics
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Processed AnnData (.h5ad) objects underlying the single-cell RNA-seq analysis in "Ferroptosis as a Physiologic Vulnerability of Iron-Recycling Macrophages" (full citation to be added upon publication). Mouse spleen, CD45+/CD64+ sorted cells, 10x Genomics scRNA…
datacite
Blank-Stein, Nelli
2026
置信度 0.66
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Processed AnnData (.h5ad) objects underlying the single-cell RNA-seq analysis in "Ferroptosis as a Physiologic Vulnerability of Iron-Recycling Macrophages" (full citation to be added upon publication). Mouse spleen, CD45+/CD64+ sorted cells, 10x Genomics scRNA…
datacite
Blank-Stein, Nelli
2026
置信度 0.66
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This extensive review provides a detailed roadmap for the elucidation, validation, and industrial-scale engineering of biosynthetic pathways, focusing on the sustainable production of high-value plant natural products and pharmaceuticals. The article begins by…
datacite
biosynthesis chemistry
2026
置信度 0.66
Biosynthetic pathwaysNatural productsArtificial intelligenceMulti-omicsMetabolic engineering
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This extensive review provides a detailed roadmap for the elucidation, validation, and industrial-scale engineering of biosynthetic pathways, focusing on the sustainable production of high-value plant natural products and pharmaceuticals. The article begins by…
datacite
biosynthesis chemistry
2026
置信度 0.66
Biosynthetic pathwaysNatural productsArtificial intelligenceMulti-omicsMetabolic engineering
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Data supporting "Exceptional Mitochondrial Diversity Under Strong Purifying Selection in Admixed Populations, and How Reference Choice Can Mask It" (Fundulus heteroclitus mitochondrial genomics). Analysis code is at https://github.com/DLCrawford/MT_Genomics. 1…
datacite
Crawford, Douglas
2026
置信度 0.66
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The exponential growth of genomic data calls for novel space-efficient algorithms for compression and search. State-of-the-art approaches often rely on tokenization of the data into k-mers, which are substrings of a fixed length. The popularity of k-mer based …
datacite
Sladký, Ondřej
2024
置信度 0.66
algorithmsbioinformaticscomputational genomicsdata structuresk-mer sets
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The exponential growth of genomic data calls for novel space-efficient algorithms for compression and search. State-of-the-art approaches often rely on tokenization of the data into k-mers, which are substrings of a fixed length. The popularity of k-mer based …
datacite
Sladký, Ondřej
2024
置信度 0.66
algorithmsbioinformaticscomputational genomicsdata structuresk-mer sets
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Reference implementation of BiU-Net, a bio-aware 1D U-Net for SNP genotype imputation: the model, data pipeline, per-dataset configs, SLURM job scripts, benchmark/report tooling, and manuscript reproducibility artifacts (figures, results tables).
datacite
learnslowly
2026
置信度 0.66
genotype imputationU-Netdeep learningSNPgenomics
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Reference implementation of BiU-Net, a bio-aware 1D U-Net for SNP genotype imputation: the model, data pipeline, per-dataset configs, SLURM job scripts, benchmark/report tooling, and manuscript reproducibility artifacts (figures, results tables).
datacite
learnslowly
2026
置信度 0.66
genotype imputationU-Netdeep learningSNPgenomics
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Familial, sequencing, and genome-wide association studies (GWASs) and genetic correlation analyses have progressively unraveled the shared or pleiotropic germline genetics of breast and ovarian cancer. In this study, we aimed to leverage this shared germline g…
datacite
Kar, Siddhartha P, Considine, Daniel PC, Tyrer, Jonathan P, Plummer, Jasmine T 等
2021
置信度 0.66
31 Biological Sciences3105 GeneticsCancer GenomicsRare DiseasesBiotechnology
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The biology of breast cancer response to neoadjuvant therapy is underrepresented in the literature and provides a window-of-opportunity to explore the genomic and microenvironment modulation of tumours exposed to therapy. Here, we characterised the mutational,…
datacite
De Mattos-Arruda, Leticia, Cortes, Javier, Blanco-Heredia, Juan, Tiezzi, Daniel G 等
2021
置信度 0.66
32 Biomedical and Clinical Sciences3211 Oncology and Carcinogenesis3204 ImmunologyWomen's HealthCancer
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This is a ClinGen Criteria Specification approved by the ClinGen Clinical Domain Working Group Oversight Committee and the ClinGen Variant Curation Expert Panel Review Committee. Usage subject to the Clinical Genome Resource's Terms of Use (https://clinicalgen…
datacite
Severe Combined Immunodeficiency Disease Variant Curation Expert Panel
2023
置信度 0.66
humanbiologygenomicsvariantvariant classification
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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europepmc
2026
置信度 0.80
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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europepmc
2026
置信度 0.80
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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europepmc
2026
置信度 0.80
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preprints
2026
置信度 0.74
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We describe an automated software tool to accomplish data curation tasks previously performed by humans for the Gemma genomics data re-analysis resource. Gemma is a hand-curated database of reprocessed transcriptomic studies, currently covering over 23,000 hum…
europepmc
2026
置信度 0.80
-
preprints
2026
置信度 0.74
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Computational design has transformed many fields of engineering, where simulators can explore millions of candidate design configurations before experimental development and testing. Therapeutic design in biomedicine has resisted computational design approache…
preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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Abstract Plasma-derived cell-free small non-coding RNAs are promising non-invasive biomarkers for cancer detection and monitoring. However, variability in sequencing output limits standardization, and cross-platform performance for plasma small RNA profiling h…
preprints
Amit Levon, Hadas Volkov, Rani Shlayem, Noam Shomron
2026
置信度 0.74
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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europepmc
2026
置信度 0.80
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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Abstract Human populations have evolved distinct immune responses to local pathogens, and investigating signatures of natural selection across populations can reveal both shared and population-specific immune response mechanisms. We compared genomic signatures…
preprints
Ahmed Tawfik, Kristel Van Steen, Anavaj Sakuntabhai
2026
置信度 0.74
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Abstract We introduce GeneBench-Pro, an expanded and improved version of GeneBench that comprises harder problems across a wider breadth of domains. GeneBench-Pro is a benchmark for AI agents performing realistic multi-stage scientific analyses in genomics, qu…
preprints
Jeremy Li, Suyash Shringarpure, Edmund Wong, Andrew Ho
2026
置信度 0.74
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europepmc
2026
置信度 0.80
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preprints
2026
置信度 0.74
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europepmc
2026
置信度 0.80
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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Abstract Objective Sequence-to-function models increasingly predict regulatory activity, such as chromatin accessibility, directly from DNA sequence, and are used to interpret non-coding genetic variation. Standard accuracy metrics, computed over a held-out se…
preprints
Abdulmujeeb T. Onawole, Sulaimon Basiru, Musafau Oloyede Sanni, Monsuru Aiyedun 等
2026
置信度 0.74
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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Background Iron Deficiency Anemia (IDA) is one of the most prevalent nutritional disorders globally and a leading cause of Disability Adjusted Life Years (DALYs). Conventional diagnostic methods fail to detect deficiencies at an early stage and rarely account …
preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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Abstract Gene regulatory network inference methods are commonly evaluated against a reference network whose recorded edges are treated as truth. Reference networks, however, encode different biological relations and cover different parts of the regulatory syst…
preprints
Liu Chen
2026
置信度 0.74
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74
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preprints
2026
置信度 0.74