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).

• Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients.

  PMID 20003452 · PMC2801500 · BMC medical genetics · 2009 · 8 claims · 5 setups

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  TCOF1 transcript levels are significantly reduced (~18%) in leucocytes of TCS patients compared to controls

  leucocytes mesenchymal leucocyte real-time direct flow

• A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndrome.

  PMID 30833571 · PMC6399342 · Nature communications · 2019 · 8 claims · 8 setups

  Has reproduction · 90

  16 genome-wide significant susceptibility loci for CTS were identified in UK Biobank

  biobank surgically gtex height gwas bulk summary

• Epistemic uncertainty challenges aging clock reliability in predicting rejuvenation effects.

  PMID 39072888 · PMC11561706 · Aging cell · 2024 · 8 claims · 8 setups

  Has reproduction · 93

  DNA methylation profiles observed across cellular reprogramming are poorly represented in the training data of existing aging clocks, introducing high out-of-distribution/epistemic uncertainty in their age estimates

  males skin liver linear dnam epigenetic

• SeqDoC: rapid SNP and mutation detection by direct comparison of DNA sequence chromatograms.

  PMID 15927052 · PMC1156871 · BMC bioinformatics · 2005 · 8 claims · 6 setups

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  SeqDoC generates a subtracted difference trace between a reference and test chromatogram that highlights single base changes

  melanocortin same paired test chromatogram tracediff weak

• Genome scans of facial features in East Africans and cross-population comparisons reveal novel associations.

  PMID 34411106 · PMC8375984 · PLoS genetics · 2021 · 8 claims · 3 setups

  Has reproduction

  Genome scans of multivariate 3D facial shape phenotypes in Tanzanian children revealed significant associations at 20 loci (p < 2.5 × 10^-8).

  tanzanian european cranial gwas cross-population functional

• Analysis of X chromosome inactivation in autism spectrum disorders.

  PMID 18361425 · PMC4867005 · American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2008 · 6 claims · 5 setups

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  No significant excess of skewed XCI was found in mothers of children with ASD or in affected girls compared to controls

  genomic multiplex mecp2 four chromosome non-parametric mutation

• Rapid detection of allele loss in colorectal tumours using microsatellites and fluorescent DNA technology.

  PMID 8512811 · PMC1968523 · British journal of cancer · 1993 · 6 claims · 3 setups

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  Fluorescently labelled microsatellite PCR products analysed on an automated DNA sequencer allow rapid, automated quantitation (peak size, height, area) of allele loss, avoiding drawbacks of radioactive RFLP analysis.

  fresh-frozen paired pcr genomic fluorescent automated

• RNAmountAlign: Efficient software for local, global, semiglobal pairwise and multiple RNA sequence/structure alignment.

  PMID 31978147 · PMC6980424 · PloS one · 2020 · 8 claims · 6 setups

  Has reproduction · 71

  RNAmountAlign is the first RNA sequence/structure pairwise alignment algorithm based on incremental ensemble mountain distance, running in O(n^3) time and O(n^2) space for two sequences of length n.

  sequences sequence trna target pairwise global single

• A robust approach to identifying tissue-specific gene expression regulatory variants using personalized human induced pluripotent stem cells.

  PMID 19911041 · PMC2766639 · PLoS genetics · 2009 · 8 claims · 7 setups

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  Padlock probes combined with high-throughput sequencing enable accurate, quantitative, low-bias digital RNA allelotyping of allele-specific expression

  genomic pgp1 skin fibroblasts padlock quantitative gene