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).

• A Scalable Framework for Comprehensive Typing of Polymorphic Immune Genes from Long-Read Data.

  PMID 41669879 · PMC13088316 · Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026 · 8 claims · 8 setups

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  SpecImmune is the first unified computational framework to simultaneously genotype HLA, KIR, IG, TCR, and CYP genes from long-read data.

  1kgp hprc hgsvc long-read targeted germline

• RUMINA: high-throughput deduplication of unique molecular identifiers for amplicon and whole-genome sequencing with enhanced error correction.

  PMID 41734278 · PMC12975283 · Bioinformatics (Oxford, England) · 2026 · 8 claims · 4 setups

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  RUMINA improves detection accuracy of ultra-low frequency SNVs (0.01%-1%) compared to UMI-tools and UMICollapse

  hiv simulated empirical clinical simulated umi iclip

• Genetic Surveillance Reveals Differential Evolutionary Dynamic of Anopheles gambiae Under Contrasting Insecticidal Tools Used in Malaria Control.

  PMID 41773559 · PMC12954828 · Molecular ecology · 2026 · 6 claims · 8 setups

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  Despite substantial reductions in indoor mosquito densities, nucleotide diversity and linkage-disequilibrium-based estimates showed no significant decline in effective population size after intervention

  anopheles gambiae simulated whole-genome principal linkage

• ImmuSeeker: deep mining of immune-related gene family signatures through lineage reconstruction.

  PMID 41888873 · PMC13154904 · Genome biology · 2026 · 8 claims · 6 setups

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  ImmuSeeker leverages the phylogenetic structure of HLA/KIR alleles in its alignment and filtering strategy to improve accuracy and robustness of immune gene signature detection

  a549 rna-seq covid-19 autoimmune bulk iso-seq rna-seq

• Virus variant quantification with Orthanq.

  PMID 41639627 · PMC12930645 · BMC bioinformatics · 2026 · 8 claims · 6 setups

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  Orthanq performs identification and uncertainty-aware quantification of known virus variants of any virus species, including in samples with mixed infections

  simulated real mixture sequencing sequencing-based pangenome variant

• Infrequent somatic mutation of the MTS1 gene in primary bladder carcinomas.

  PMID 7744694 · PMC5920817 · Japanese journal of cancer research : Gann · 1995 · 5 claims · 3 setups

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  MTS1/CDK4I is a candidate tumor suppressor gene located on chromosome 9p21

  bladder sscp sequencing allelic

• Polymorphic repeat in AIB1 does not alter breast cancer risk.

  PMID 11056690 · PMC13920 · Breast cancer research : BCR · 2000 · 7 claims · 3 setups

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  AIB1 alleles with 26 or fewer glutamine repeats are not associated with increased breast cancer risk in the general population

  peripheral cohort plasma pcr nested plasma

• Complex genetic diseases: controversy over the Croesus code.

  PMID 11532206 · PMC138948 · Genome biology · 2001 · 8 claims · 3 setups

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  The common disease/common variant hypothesis is predicted by population genetic theory (founder population dynamics, mutation-drift-selection balance) and supported by empirical examples such as APOE*E4.

  chromosome northern disease large-scale genome-wide database

• No direct effect of the -521 C/T polymorphism in the human dopamine D4 receptor gene promoter on transcriptional activity.

  PMID 16723017 · PMC1481588 · BMC molecular biology · 2006 · 8 claims · 3 setups

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  The -521 C/T SNP has no significant effect on transcriptional activity of the DRD4 promoter in any of three neural cell lines tested

  sk-n-f1 rt-pcr luciferase

• Analysis of pooled DNA samples on high density arrays without prior knowledge of differential hybridization rates.

  PMID 16627870 · PMC1440945 · Nucleic acids research · 2006 · 7 claims · 3 setups

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  A GLMM-based test statistic that models the nested structure of array replicate/strand/probe measurements achieves correct type I error, unlike naive or t-test based statistics.

  endometriosis individual pooling concentration pcr-based

• Genetic association study and meta-analysis of the HTR2C Cys23Ser polymorphism and migraine.

  PMID 17901921 · PMC3451673 · The journal of headache and pain · 2007 · 8 claims · 3 setups

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  The HTR2C Cys23Ser polymorphism is not significantly associated with migraine or migraine with aura in the case-control study

  blood-derived migraine pooled allelic case-control meta-analysis

• Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy.

  PMID 18680191 · PMC3708306 · American journal of medical genetics. Part A · 2008 · 8 claims · 3 setups

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  A novel heterozygous SCN1A frameshift mutation, c.3608delA (p.Gln1203HisfsX4), was identified in a postmortem SMEI patient, located in the D2-D3 intracellular linker of NaV1.1.

  postmortem cdna western quantitative

• High-density single nucleotide polymorphism genome-wide linkage scan for susceptibility genes for diabetic nephropathy in type 1 diabetes: discordant sibpair approach.

  PMID 18559660 · PMC2518505 · Diabetes · 2008 · 8 claims · 3 setups

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  Primary linkage finding for diabetic nephropathy is on chromosome 19q

  sibpairs genotype patients genome-wide statistical urinary

• MTHFR 677C>T and ACE D/I polymorphisms in migraine: a systematic review and meta-analysis.

  PMID 19925624 · PMC3071567 · Headache · 2010 · 6 claims · 3 setups

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  The MTHFR 677TT genotype is associated with increased risk of migraine with aura but not migraine without aura

  migraineurs pooled genotyping meta-analysis

• Given the complexity of the human genome, can 'personalised medicine' or 'individualised drug therapy' ever be achieved?

  PMID 19706359 · PMC3525196 · Human genomics · 2009 · 7 claims · 3 setups

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  The human genome is far too complex, given current understanding, for personalised medicine or individualised drug therapy to be realised in the near term

  populations genome genome-wide genome

• Allelic Variation at tRNA Genes in Three Nematode Species Indicates Mutation Load Despite Strong Purifying Selection.

  PMID 41777052 · PMC13010820 · Genome biology and evolution · 2026 · 8 claims · 3 setups

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  tRNA genes and their flanking regions show signatures of high historical transcription-associated mutagenesis (TAM) combined with strong purifying selection on the gene body

  reference strains computational population full-length

• Modeling genetic inheritance of copy number variations.

  PMID 18832372 · PMC2588508 · Nucleic acids research · 2008 · 8 claims · 4 setups

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  A joint HMM framework for parents-offspring trios significantly improves CNV call rates and boundary inference accuracy compared to existing methods.

  simulated parent-offspring hapmap hmm-based snp genotype

• Bayesian estimates of linkage disequilibrium.

  PMID 17592642 · PMC1924864 · BMC genetics · 2007 · 8 claims · 3 setups

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  The MLE of D' is biased toward disequilibrium, with the bias particularly severe in small samples (<100 subjects) and rare alleles (MAF<0.05)

  simulated genotype pairwise computer genotype bayesian

• Mapping the gene regulatory landscape of archaic hominin introgression in modern Papuans.

  PMID 41875405 · PMC13012733 · PLoS genetics · 2026 · 8 claims · 2 setups

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  A massively parallel reporter assay (MPRA) can be used to functionally test regulatory activity of over 25,000 archaic introgressed SNPs segregating in Papuan populations

  lymphoblastoid massively high-throughput

• IMGT, the international ImMunoGeneTics information system.

  PMID 15608269 · PMC540019 · Nucleic acids research · 2005 · 8 claims · 6 setups

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  IMGT is a high-quality integrated knowledge resource for immunoglobulins (IG), T cell receptors (TR), MHC, and related proteins of the immune system (RPI) across vertebrate species

  igh mhc pairs automated junction structure