Experiments
Searchable full-text extractions: founding hypothesis, core claims, experimental setups, key results and statistics — pulled out of each paper as structure. Search a cell line, an assay or an entity (e.g. HUH7) and find every paper that worked with it. This corpus stands on its own: most entries carry no reproduction assessment (yet).
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Has reproduction · 87
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
PMID 39039281 · PMC11319204 · Nature genetics · 2024 · 6 claims · 5 setups
A structured multidisciplinary exome sequencing framework established molecular genetic diagnoses in 32% of patients with suspected ultrarare disorders, comprising 370 distinct molecular causes.
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Has reproduction · 80
GenomeChronicler: The Personal Genome Project UK Genomic Report Generator Pipeline.
PMID 33193602 · PMC7541957 · Frontiers in genetics · 2020 · 8 claims · 5 setups
GenomeChronicler is, to the authors' knowledge, the first pipeline that can be run offline or in the cloud to generate non-disease-limited personal genomics reports from whole genome or whole exome sequencing data.
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Has reproduction
Accelerating rare disease diagnostics by linking DNA and RNA through an explainable and interactive RNA-guided workflow.
PMID 41685349 · PMC12891912 · NAR genomics and bioinformatics · 2026 · 7 claims · 7 setups
An integrated RNA-guided variant interpretation workflow combining OUTRIDER, FRASER, MOLGENIS VIP, and Borzoi enhances clinical variant interpretation and reclassification of VUS in rare disease cases.
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Has reproduction · 87
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.
PMID 39256359 · PMC11387733 · Nature communications · 2024 · 8 claims · 7 setups
Heterozygous missense or loss-of-function variants in LRRC7 cause a dominant neurodevelopmental disorder in 33 identified individuals