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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Understanding incidental findings in the context of genetics and genomics.
PMID 18547195 · PMC2581745 · The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics · 2008 · 8 claims · 3 setups
No consensus exists on researchers' responsibilities to disclose individual genetic/genomic research results to participants.
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Managing incidental findings in human subjects research: analysis and recommendations.
PMID 18547191 · PMC2575242 · The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics · 2008 · 8 claims · 5 setups
Little guidance currently exists on managing research IFs, and no consensus exists on the best approach across genetic/genomic and imaging research domains.
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Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease.
PMID 19949810 · PMC2865568 · Journal of neurology · 2010 · 7 claims · 4 setups
CNVs are a rare cause of non-CMT1A Charcot-Marie-Tooth disease
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Gene duplication: the genomic trade in spare parts.
PMID 15252449 · PMC449868 · PLoS biology · 2004 · 8 claims · 7 setups
Gene duplication relaxes selective constraint on one copy, allowing exploration of evolutionary space that is otherwise forbidden in single-copy genes, making duplication the major opportunity for new gene function evolution.
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Global variation in copy number in the human genome.
PMID 17122850 · PMC2669898 · Nature · 2006 · 8 claims · 6 setups
A first-generation CNV map of the human genome was constructed from 270 HapMap individuals across four populations, identifying 1,447 CNV regions covering ~360 Mb (12%) of the genome.
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Completing the map of human genetic variation.
PMID 17495918 · PMC2685471 · Nature · 2007 · 8 claims · 5 setups
A community resource initiative will sequence fosmid and BAC clone libraries from 62 HapMap individuals to systematically discover and resolve structural genetic variants at nucleotide resolution
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An integrative approach to reveal driver gene fusions from paired-end sequencing data in cancer.
PMID 19881495 · PMC3086882 · Nature biotechnology · 2009 · 8 claims · 8 setups
A 'concept signature' (ConSig) score algorithm ranks genes by association with molecular concepts characteristic of fusion or mutation cancer genes, nominating biologically important fusions from large candidate sets.
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BAC to the future! or oligonucleotides: a perspective for micro array comparative genomic hybridization (array CGH).
PMID 16439806 · PMC1356528 · Nucleic acids research · 2006 · 8 claims · 7 setups
oaCGH, not BAC CGH arrays, is the platform that will prevail in the future
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Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis.
PMID 18802454 · PMC2527686 · PLoS genetics · 2008 · 8 claims · 6 setups
Three heterozygous missense mutations (p.M337V, p.N345K, p.I383V) in exon 6 of TARDBP were identified in familial ALS patients
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Short tandem repeat sequences in the Mycoplasma genitalium genome and their use in a multilocus genotyping system.
PMID 18664269 · PMC2515158 · BMC microbiology · 2008 · 8 claims · 7 setups
18 STR loci (1-5 base repeat units, copy number 4-26) were identified in the M. genitalium G37 genome via bioinformatics analysis.
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Bioinformatics Analysis of the Characteristics and Correlation of m6A Methylation in Breast Cancer Progression.
PMID 35655723 · PMC9148239 · Contrast media & molecular imaging · 2022 · 8 claims · 8 setups
Breast cancer samples can be classified into 4 m6A subtypes (quiescent, m6A methylation, protein-binding, mixed) based on Z-score median of Set1 (writer+reader) and Set2 (eraser) gene expression
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Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.
PMID 18818683 · PMC2756756 · Kidney international · 2008 · 8 claims · 8 setups
Developed an MLPA assay with PKD1 exon 1-33 probes designed at single base-pair mismatches with the six PKD1 pseudogenes to achieve locus specificity
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Challenges and standards in integrating surveys of structural variation.
PMID 17597783 · PMC2698291 · Nature genetics · 2007 · 7 claims · 5 setups
There is no standard approach to collecting, assessing the quality of, or describing structural variants, risking the entire genome eventually being labeled 'structurally variant' based on uncurated nondisease-sample data.
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The promise and reality of personal genomics.
PMID 19723346 · PMC2768970 · Genome biology · 2009 · 7 claims · 6 setups
Despite being the most complete and accurate individually sequenced human genome to date, AK1 sequencing still misses a substantial fraction of variants, showing sequencing technology remains far from complete/reliable.
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The dynamic distribution of genetic tandem amplifications in a heteroresistant Escherichia coli population revealed by ultra-deep long read sequencing.
PMID 41760616 · PMC12953903 · Nature communications · 2026 · 8 claims · 6 setups
Ultra-deep Nanopore sequencing of I-SceI-linearized plasmid DNA can detect and quantify full tandem amplification arrays at single-molecule resolution down to frequencies of 10^-5
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Full-length 16S rRNA nanopore sequencing enables species resolution of Fusobacterium associated with colorectal cancer.
PMID 41963777 · PMC13078227 · Gut microbes · 2026 · 8 claims · 7 setups
Full-length 16S rRNA ONT sequencing combined with custom demultiplexing (nanoMux) enables robust species-level discrimination within the Fusobacterium genus
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Single-cell resolution of an open chromatin signature in persister tumor cells.
PMID 41485222 · PMC12978573 · Cell reports · 2026 · 8 claims · 8 setups
Single-nucleus multi-omic (snRNA-seq + snATAC-seq) profiling of fallopian tube, treatment-naive, and NACT-treated HGSOC tissue identifies a persister cell signature (PCS) defining the chemotherapy-tolerant state.
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Metabolic resistance of the tiger mosquito to pyrethroid insecticides in La Réunion Island likely results from local adaptation.
PMID 41718473 · PMC12963046 · Genome biology and evolution · 2026 · 8 claims · 5 setups
Deltamethrin resistance in La Réunion Ae. albopictus is not associated with known target-site (Kdr) mutations in the VGSC gene