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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Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.
PMID 19844255 · PMC2824775 · European journal of human genetics : EJHG · 2010 · 7 claims · 7 setups
A locus on chromosome 16q23-24 affects HDL-C levels in two independent French-Canadian family studies (QUE and SLSJ)
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Loss of heterozygosity at 2q37 in sporadic Wilms' tumor: putative role for miR-562.
PMID 19789318 · PMC2756455 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2009 · 8 claims · 8 setups
2q37 harbors a tumor suppressor gene important in Wilms tumor pathogenesis
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Targeted capture and massively parallel sequencing of 12 human exomes.
PMID 19684571 · PMC2844771 · Nature · 2009 · 8 claims · 8 setups
Targeted exome capture combined with massively parallel sequencing sensitively and specifically identifies rare and common variants across >300 Mb of coding sequence
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A novel gammaD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract.
PMID 19668596 · PMC2722711 · Molecular vision · 2009 · 8 claims · 6 setups
A novel heterozygous CRYGD mutation c.43C>A (R15S) causes congenital coralliform cataract in Family A
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Recurring mutations found by sequencing an acute myeloid leukemia genome.
PMID 19657110 · PMC3201812 · The New England journal of medicine · 2009 · 8 claims · 8 setups
Deep paired tumor/normal whole-genome sequencing of a cytogenetically normal AML-M1 genome identified 12 somatic coding (tier 1) mutations and 52 somatic tier 2 (conserved/regulatory) mutations.
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Atlas of nascent RNA transcripts reveals tissue-specific enhancer to gene linkages.
PMID 40281430 · PMC12032694 · BMC genomics · 2025 · 7 claims · 8 setups
A large repository of nascent run-on RNA-seq samples (DBNascent) was assembled and uniformly processed to identify sites of bidirectional transcription genome-wide.
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Revealing potential interfering genes between abdominal aortic aneurysm and periodontitis through machine learning and bioinformatics analysis.
PMID 40857330 · PMC12380325 · PloS one · 2025 · 6 claims · 8 setups
90 interacting genes were identified at the intersection of AAA DEGs and periodontitis WGCNA module genes
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Alpseq: an open-source workflow to turbocharge nanobody discovery with high-throughput sequencing.
PMID 41631412 · PMC12885427 · mAbs · 2026 · 8 claims · 8 setups
alpseq is an open-source, end-to-end workflow combining a PCR-free sequencing library prep protocol with a Nextflow pre-processing pipeline and an R-based analysis/reporting module for nanobody NGS data.
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Integrating complex genomic datasets and tumour cell sensitivity profiles to address a 'simple' question: which patients should get this drug?
PMID 20003409 · PMC2799438 · BMC medicine · 2009 · 8 claims · 5 setups
A panel of 48 genomically characterized breast cancer cell lines can model patient tumour heterogeneity to identify biomarkers predicting response to PG-11047
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Virus variant quantification with Orthanq.
PMID 41639627 · PMC12930645 · BMC bioinformatics · 2026 · 8 claims · 6 setups
Orthanq performs identification and uncertainty-aware quantification of known virus variants of any virus species, including in samples with mixed infections
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Software for tag single nucleotide polymorphism selection.
PMID 16004730 · PMC3525260 · Human genomics · 2005 · 8 claims · 3 setups
Pairwise R2 methods tend to pick more tagging SNPs than strictly needed because they miss redundancy where two or more tag SNPs jointly predict an untagged SNP with no single direct surrogate.
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Mutation patterns of mtDNA: empirical inferences for the coding region.
PMID 18518963 · PMC2438339 · BMC evolutionary biology · 2008 · 5 claims · 3 setups
Heteroplasmy was detected in 6.5% (3/46) of Azorean families analyzed, all caused by new point mutations with no insertions/deletions.
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SOP3v2: web-based selection of oligonucleotide primer trios for genotyping of human and mouse polymorphisms.
PMID 15980532 · PMC1160243 · Nucleic acids research · 2005 · 7 claims · 3 setups
SOP 3 v2 is a web-based application that outputs recommended forward/reverse PCR primers plus a sequencing primer optimized for sequence-based genotyping of human and mouse polymorphisms
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Has reproduction
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
PMID 20887964 · PMC2948809 · American journal of human genetics · 2010 · 5 claims · 3 setups
WDR11 is a gene involved in human puberty, identified via the chromosomal breakpoint of a balanced t(10;12) translocation in a Kallmann syndrome subject.
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COMUS: Clinician-Oriented locus-specific MUtation detection and deposition System.
PMID 19958500 · PMC2788389 · BMC genomics · 2009 · 8 claims · 6 setups
COMUS is a bioinformatics system for detecting and depositing new mutations from patient DNA with a clinician-friendly interface
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Outlook on Thailand's genomics and computational biology research and development.
PMID 18654621 · PMC2446437 · PLoS computational biology · 2008 · 8 claims · 8 setups
Thai government policy support, infrastructure investment, education programs, and human resource development have substantially advanced genomics and bioinformatics research capacity in Thailand
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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
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Has reproduction · 84
Genome of the Asian longhorned beetle (Anoplophora glabripennis), a globally significant invasive species, reveals key functional and evolutionary innovations at the beetle-plant interface.
PMID 27832824 · PMC5105290 · Genome biology · 2016 · 8 claims · 7 setups
The A. glabripennis genome encodes a uniquely diverse arsenal of enzymes that degrade plant cell wall polysaccharide networks (cellulose, hemicellulose, pectin) and detoxify plant allelochemicals.
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Has reproduction · 90
Single-cell transcriptional dynamics of flavivirus infection.
PMID 29451494 · PMC5826272 · eLife · 2018 · 8 claims · 7 setups
viscRNA-Seq, a modified Smart-seq2 protocol with an added virus-specific capture oligo, enables simultaneous quantification of host mRNA and intracellular viral RNA from the same single cell.
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Has reproduction · 85
Reactivation of a developmentally silenced embryonic globin gene.
PMID 34290235 · PMC8295333 · Nature communications · 2021 · 8 claims · 8 setups
In embryonic (primitive) erythroid cells, the ζ-gene lies within a ~65 kb sub-TAD of open, acetylated chromatin and physically interacts with the α-globin super-enhancer.