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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HIV-1 evolution following transmission to an HLA-B*5801-positive patient.
PMID 19909081 · PMC2779566 · The Journal of infectious diseases · 2009 · 8 claims · 8 setups
Multiple escape mutations developed rapidly in HLA-B*5801-restricted epitopes in Gag, Nef, and Pol following transmission
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Identification and characterization of HLA-A*0301 epitopes in HIV-1 gag proteins using a novel approach.
PMID 19903485 · PMC2836169 · Journal of immunological methods · 2010 · 7 claims · 7 setups
PS mutations V7I and I34L (p17) and K403R (p7) in HIV-1 gag significantly correlate with HLA-A*0301
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Timing constraints of in vivo gag mutations during primary HIV-1 subtype C infection.
PMID 19890401 · PMC2768328 · PloS one · 2009 · 7 claims · 7 setups
Reverse mutations to the wild type (HIV-1C consensus) in Gag appear significantly earlier than escape mutations from the wild type during primary infection
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Sequence variations of GRM6 in patients with high myopia.
PMID 19862333 · PMC2765235 · Molecular vision · 2009 · 7 claims · 8 setups
Three novel GRM6 variations with predicted functional consequences (c.67-82delCAGGCGGGCCTGGCGCinsT, c.858-5a>g, c.1537G>A) were found in high myopia patients but absent in 96 controls
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Toward the use of genomics to study microevolutionary change in bacteria.
PMID 19855823 · PMC2756242 · PLoS genetics · 2009 · 7 claims · 5 setups
The clonal population structure of bacteria, combined with occasional DNA import, provides a powerful context for identifying genetic bases of adaptive phenotypes via association studies.
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Prevalence of the congenital long-QT syndrome.
PMID 19841298 · PMC2784143 · Circulation · 2009 · 7 claims · 6 setups
The prevalence of LQTS among Caucasian apparently healthy live-births is at least 1:2,534 (95% CI 1:1,583-1:4,350)
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High resolution analysis of the human transcriptome: detection of extensive alternative splicing independent of transcriptional activity.
PMID 19804644 · PMC2768739 · BMC genetics · 2009 · 8 claims · 6 setups
The human GWSA uses exon body and exon-exon junction probes to directly measure over 280,000 known and predicted splicing events genome-wide.
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The novel Y371D myocilin mutation causes an aggressive form of juvenile open-angle glaucoma in a Caucasian family from the Middle-East.
PMID 19784393 · PMC2751802 · Molecular vision · 2009 · 6 claims · 4 setups
A novel MYOC missense mutation, Y371D (1111t→g), causes an aggressive, autosomal dominant form of JOAG in this family.
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Using structural bioinformatics to investigate the impact of non synonymous SNPs and disease mutations: scope and limitations.
PMID 19758473 · PMC2745591 · BMC bioinformatics · 2009 · 8 claims · 8 setups
None of 39 tested structural properties can be used as a sole classification criterion to separate neutral SNPs from disease mutations.
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A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family.
PMID 19753316 · PMC2742643 · Molecular vision · 2009 · 8 claims · 6 setups
A novel nonsense mutation (c.614C>A; p.S205X) in exon 1 of GRK1 causes disease in family RP19
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Frequency of single nucleotide polymorphisms in NOD1 gene of ulcerative colitis patients: a case-control study in the Indian population.
PMID 19723304 · PMC2748065 · BMC medical genetics · 2009 · 7 claims · 4 setups
Three NOD1 Exon 6 SNPs (W219R, L349P, L370R) show statistically significant association with ulcerative colitis compared to controls
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Mutations at codons 178, 200-129, and 232 contributed to the inherited prion diseases in Korean patients.
PMID 19698114 · PMC2749045 · BMC infectious diseases · 2009 · 8 claims · 7 setups
Three PRNP mutations—D178N, E200K, and M232R—were identified in heterozygosity in Korean probable CJD patients, marking their first report in this population.
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New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.
PMID 19686598 · PMC2736583 · BMC medical genetics · 2009 · 8 claims · 7 setups
DGGE screening of the non-duplicated PKD1 region detects likely pathogenic mutations in Czech ADPKD patients
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Multiple functions of precursor BDNF to CNS neurons: negative regulation of neurite growth, spine formation and cell survival.
PMID 19674479 · PMC2743674 · Molecular brain · 2009 · 7 claims · 8 setups
R125M, R127L, and R125M/R127L BDNF SNP variants are poorly cleaved, resulting in predominant secretion of proBDNF (CR-proBDNF)
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BreakDancer: an algorithm for high-resolution mapping of genomic structural variation.
PMID 19668202 · PMC3661775 · Nature methods · 2009 · 8 claims · 8 setups
BreakDancer (BreakDancerMax + BreakDancerMini) is a software package that predicts a wide variety of structural variants including deletions, insertions, inversions, and intra/inter-chromosomal translocations from paired-end short-insert sequencing reads.
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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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A comprehensive resource of genomic, epigenomic and transcriptomic sequencing data for the black truffle Tuber melanosporum.
PMID 25392735 · PMC4228822 · GigaScience · 2014 · 8 claims · 8 setups
T. melanosporum shows a high rate of cytosine methylation (>44%) that selectively targets transposable elements rather than genes, with a strong preference for CpG sites.
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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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Has reproduction · 71
polishCLR: A Nextflow Workflow for Polishing PacBio CLR Genome Assemblies.
PMID 36792366 · PMC9985148 · Genome biology and evolution · 2023 · 8 claims · 8 setups
polishCLR is a reproducible, containerized Nextflow workflow that implements best practices for polishing PacBio CLR genome assemblies.
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Sequence variation in G-protein-coupled receptors: analysis of single nucleotide polymorphisms.
PMID 15784611 · PMC1069129 · Nucleic acids research · 2005 · 7 claims · 8 setups
Position-specific phylogenetic features describing evolutionary conservation at a site (e.g. SIFT score, normalized site entropy, residue frequency change) are the best individual discriminators of disease-causing versus neutral GPCR mutations.