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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The role of medical structural genomics in discovering new drugs for infectious diseases.
PMID 19855826 · PMC2756625 · PLoS computational biology · 2009 · 8 claims · 6 setups
Structure-based drug design using X-ray/NMR protein structures has contributed to the development of numerous approved and improved therapeutics.
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Lineage specific recombination rates and microevolution in Listeria monocytogenes.
PMID 18842152 · PMC2576243 · BMC evolutionary biology · 2008 · 8 claims · 6 setups
Recombination is more prevalent in lineage II than in lineage I
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A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family.
PMID 20019893 · PMC2794658 · Molecular vision · 2009 · 7 claims · 7 setups
A novel missense mutation c.92T>C (p.I31T) in GJA8 causes autosomal dominant congenital nuclear cataract in this Chinese family
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Adapting to a changing world: RAG genomics and evolution.
PMID 16004728 · PMC3525258 · Human genomics · 2005 · 8 claims · 7 setups
RAG-1/RAG-2 origin is a foundational hallmark of adaptive immunity, enabling V(D)J recombination of antigen receptor genes.
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Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.
PMID 18719945 · PMC2716558 · Human genetics · 2008 · 8 claims · 6 setups
PCDH15 has an updated gene structure with four additional exons beyond the previously reported 35, producing isoforms in four classes with three alternative cytoplasmic domains (CD1, CD2, CD3).
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Has reproduction · 83
Integrative transcriptomic and machine learning framework reveals candidate genes and potential mechanisms of aflatoxin B1 exposure in breast cancer.
PMID 41688730 · PMC12982753 · Scientific reports · 2026 · 7 claims · 8 setups
170 unique human AFB1 targets were identified by merging ChEMBL, SwissTargetPrediction, and PharmMapper predictions
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Influenza A (H3N2) outbreak, Nepal.
PMID 16102305 · PMC3320503 · Emerging infectious diseases · 2005 · 7 claims · 6 setups
Nepal H3N2 outbreak isolates show antigenic drift, with ~40% antigenically distinct from the A/Wyoming/3/03 vaccine strain by hemagglutination inhibition
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The pharmacogenomics of membrane transporters project: research at the interface of genomics and transporter pharmacology.
PMID 19940846 · PMC2923224 · Clinical pharmacology and therapeutics · 2010 · 8 claims · 8 setups
PMT identified sequence variants in 129 membrane transporter genes in the SLC and ABC superfamilies, discovering over 3100 SNPs
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Genome-wide diversity and selective pressure in the human rhinovirus.
PMID 17477878 · PMC1892812 · Virology journal · 2007 · 7 claims · 6 setups
Whole genome and subgenomic phylogenies of HRV are essentially identical at every locus, indicating consistent phylogenetic patterns across the genome.
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Multi locus sequence typing of Chlamydiales: clonal groupings within the obligate intracellular bacteria Chlamydia trachomatis.
PMID 18307777 · PMC2268939 · BMC microbiology · 2008 · 8 claims · 7 setups
MLST of 26 C. trachomatis strains reveals three non-overlapping clonal complexes (groups I, II, III)
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Two novel myocilin mutations in a Chinese family with primary open-angle glaucoma.
PMID 18776955 · PMC2530518 · Molecular vision · 2008 · 7 claims · 4 setups
Two novel MYOC mutations, Pro13Leu (38C→T) and Gln337Stop (1009C del), are likely responsible for POAG pathogenesis in this pedigree
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Has reproduction · 78
Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage.
PMID 32367296 · PMC7419486 · Journal of neurology · 2020 · 8 claims · 6 setups
Sequence variants in PCNT, RNF213 and THSD1 support a role as susceptibility factors for cerebrovascular disease (UIA/aSAH)
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Assignment of Streptococcus agalactiae isolates to clonal complexes using a small set of single nucleotide polymorphisms.
PMID 18710585 · PMC2533671 · BMC microbiology · 2008 · 7 claims · 6 setups
A four-SNP set (glnA36, glnA429, glcK180, adhP111) identified via the Not-N algorithm plus empirical testing divides GBS into 10 groups concordant with eBURST-defined population structure.
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A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family.
PMID 18618005 · PMC2447816 · Molecular vision · 2008 · 6 claims · 4 setups
A heterozygous c.327C>A transversion in exon 3 of CRYGC causes a nonsense mutation (C109X) that cosegregates with autosomal dominant congenital nuclear cataract in a Chinese family.
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Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2.
PMID 19649175 · PMC2718852 · Molecular vision · 2009 · 8 claims · 6 setups
A heterozygous missense mutation c.607G>A in exon 6 of CRYBB2, causing p.Val187Met, is the probable causative mutation for congenital nuclear cataract in this family
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Has reproduction · 64
Candidates for Balancing Selection in Leishmania donovani Complex Parasites.
PMID 34865011 · PMC8717319 · Genome biology and evolution · 2021 · 7 claims · 8 setups
Five genetically distinct, well-sampled populations exist within the L. donovani complex: EA1, EA2 (East Africa), ISC1, ISC2 (Indian subcontinent), and BM (Brazil-Mediterranean)
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Development of an integrated genome informatics, data management and workflow infrastructure: a toolbox for the study of complex disease genetics.
PMID 15601538 · PMC3525068 · Human genomics · 2004 · 8 claims · 8 setups
An integrated system combining Ensembl, ACeDB, Gbrowse and custom relational databases provides a scalable genome informatics and workflow infrastructure for complex disease gene discovery.
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Diet and DNA.
PMID 15174456 · PMC1315985 · Environmental health perspectives · 2004 · 8 claims · 8 setups
The tombusvirus CIRV p19 protein selectively binds short (21-22 nt) silencing siRNAs, using tryptophan residues Trp39 and Trp42 as molecular 'calipers' that stack with the ends of the siRNA duplex
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PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.
PMID 16430766 · PMC1434729 · BMC medical genetics · 2006 · 7 claims · 8 setups
Linkage analysis can pre-select which gene (PKD1 or PKD2) to screen for mutations in ADPKD families with sufficient samples
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Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy.
PMID 19112530 · PMC2610289 · Molecular vision · 2008 · 8 claims · 5 setups
Two novel heterozygous OPA1 mutations were identified: a splice-site mutation c.985-2A>G in family F1 and a nonsense mutation c.2197C>T (p.R733X) in family F2