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 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm.

  PMID 24193348 · PMC4060107 · European journal of human genetics : EJHG · 2014 · 6 claims · 2 setups

  Has reproduction · 83

  A novel heterozygous c.1165dupA mutation in exon 7 of TGFB2 (p.Ser389Lysfs*8) was identified in three members of one family with syndromic TAAD.

  cohort patient-derived sanger transcript

• Expanding CEP290 mutational spectrum in ciliopathies.

  PMID 19764032 · PMC4340070 · American journal of medical genetics. Part A · 2009 · 7 claims · 4 setups

  Full-text index only

  A large heterozygous genomic deletion spanning the CEP290 C-terminus (exons 42-54) was identified in a JSRD-COR patient previously known to carry only one CEP290 point mutation.

  peripheral genomic quantitative cdna pcr

• Quality control method for RNA-seq using single nucleotide polymorphism allele frequency.

  PMID 25243705 · PMC4231238 · Genes to cells : devoted to molecular & cellular mechanisms · 2014 · 8 claims · 8 setups

  Has reproduction · 50

  SNP allele frequency distributions from RNA-seq reads can detect contaminating cells whose genomic background differs from the target cells; the mode of the distribution reflects the cellular composition while its variance reflects PCR bias.

  mathematical escs pure stap simulation rna-seq contamination

• Landscape of allele-specific transcription factor binding in the human genome.

  PMID 33980847 · PMC8115691 · Nature communications · 2021 · 8 claims · 6 setups

  Has reproduction · 82

  A novel statistical framework (ADASTRA) calls allele-specific TF binding from existing ChIP-Seq alignments by jointly correcting for background allelic dosage (BAD, from aneuploidy/CNVs) and reference mapping bias.

  gtrd k562 mcf7 types chip-seq variant bayesian

• Pleiotropic effects of MORC2 derive from its epigenetic signature.

  PMID 40302207 · PMC12782172 · Brain : a journal of neurology · 2026 · 8 claims · 8 setups

  Has reproduction

  A MORC2-specific DNA methylation episignature exists that is universal across all MORC2-associated phenotypes and conserved across blood and fibroblast tissue

  blood fibroblasts fibroblast patient-derived methylation svm phenotype-specific

• Transgenerational inheritance of an acquired small RNA-based antiviral response in C. elegans.

  PMID 22119442 · PMC3250924 · Cell · 2011 · 8 claims · 8 setups

  Has reproduction · 68

  viRNA-mediated silencing of the FR1gfp Flock House virus is transmitted to RNAi-deficient (rde-1 or rde-4 homozygous) progeny and persists for many ensuing generations, i.e. an acquired antiviral trait is inherited.

  transgenic elegans four gfp genetic template-independence

• Integrative analysis of RUNX1 downstream pathways and target genes.

  PMID 18671852 · PMC2529319 · BMC genomics · 2008 · 7 claims · 8 setups

  Full-text index only

  Integrating gene expression profiles from three independent RUNX1 perturbation platforms (FPD-AML patient cell lines, RUNX1/CBFβ overexpression in HeLa cells, Runx1 knockout mouse embryos) identifies RUNX1-regulated genes and downstream pathways

  lymphoblastic hela runx1 aml cdna microarray affymetrix

• Nutrigenetic association of the 5-lipoxygenase gene with myocardial infarction.

  PMID 18842779 · PMC3014055 · The American journal of clinical nutrition · 2008 · 8 claims · 4 setups

  Full-text index only

  A significant gene x diet interaction exists between 5-LO promoter short alleles (3,4 repeats) and dietary AA intake in determining MI risk

  costa buffy genetic real-time allele-specific

• baal-nf identifies motif-disrupting variants that decrease transcription factor binding affinity.

  PMID 41526967 · PMC12888418 · Genome biology · 2026 · 8 claims · 7 setups

  Full-text index only

  baal-nf is a nextflow-based pipeline that infers allele-specific binding (ASB) from ChIP-seq data by integrating BaalChIP with de novo (NoPeak) and known (JASPAR) motif mapping to identify motif-disrupting variants

  genotyped chip-seq heterozygous high-quality chip-seq motif evolutionary

• Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort.

  PMID 16824219 · PMC1534050 · BMC neurology · 2006 · 7 claims · 5 setups

  Full-text index only

  The C282Y variant allele of HFE is significantly overrepresented in PD patients compared to controls, suggesting it confers higher risk for PD

  genomic same pooled pcr-rflp pcr-based cross-tabulation

• A new form of diabetes caused by INS mutations defined by zygosity, stem cell and population data.

  PMID 41484206 · PMC12905373 · EMBO molecular medicine · 2026 · 6 claims · 7 setups

  Full-text index only

  INS R6C is a recessive loss-of-function mutation causing diabetes only in homozygous individuals, not a dominant mutation as previously classified.

  blood serum large-scale computational targeted autoantibody population

• CHD7 regulates otic lineage specification and hair cell differentiation in human inner ear organoids.

  PMID 36396635 · PMC9672366 · Nature communications · 2022 · 8 claims · 8 setups

  Has reproduction · 50

  Loss of CHD7 or its ATP-dependent chromatin remodeling activity causes complete absence of hair cells and supporting cells in inner ear organoids

  inner facs-isolated hescs hesc immunostaining scrna-seq western

• Shotgun haplotyping: a novel method for surveying allelic sequence variation.

  PMID 16221968 · PMC1253838 · Nucleic acids research · 2005 · 8 claims · 7 setups

  Full-text index only

  A novel shotgun haplotyping method generates haplotypic sequences from long PCR products by shotgun sequencing both alleles concurrently and using read-pair information to separate alleles during assembly

  genomic long pcr ampicillin-resistant long cloning short

• Evolutionary toggling of the MAPT 17q21.31 inversion region.

  PMID 19165922 · PMC2684794 · Nature genetics · 2008 · 8 claims · 6 setups

  Full-text index only

  The H2 (inverted) orientation is the most likely ancestral great ape/human configuration at 17q21.31

  chimpanzee lymphoblastoid donor whole-genome reciprocal bac

• Continued colonization of the human genome by mitochondrial DNA.

  PMID 15361937 · PMC515365 · PLoS biology · 2004 · 7 claims · 6 setups

  Full-text index only

  NUMT insertion into nuclear chromosomes is an ongoing process shaped by double-strand-break repair (as shown in yeast) and continuing in humans.

  homo genomic chimpanzee genome genome-wide pcr sanger

• SNPdetector: a software tool for sensitive and accurate SNP detection.

  PMID 16261194 · PMC1274293 · PLoS computational biology · 2005 · 7 claims · 7 setups

  Full-text index only

  SNPdetector, which models human visual inspection of sequencing traces, achieves low false positive and false negative rates in automated SNP and mutation detection

  inbred unrelated zebra same pcr manual comparative

• JAK2 V617F: a single mutation in the myeloproliferative group of disorders.

  PMID 16755940 · PMC1891745 · The Ulster medical journal · 2006 · 8 claims · 8 setups

  Full-text index only

  A single acquired JAK2 mutation (V617F, G1849T in exon 14) is found across polycythaemia vera, essential thrombocythaemia and idiopathic myelofibrosis

  blood haematopoietic granulocytes mpd pcr-direct sirna microsatellite

• A Hidden Markov Model to estimate population mixture and allelic copy-numbers in cancers using Affymetrix SNP arrays.

  PMID 17996079 · PMC2206057 · BMC bioinformatics · 2007 · 8 claims · 7 setups

  Full-text index only

  An HMM using paired germline genotype calls and tumour allelic SNP intensities can estimate allele-specific copy-numbers, distinguishing events like uniparental disomy from allelic imbalance.

  hapmap bladder prostate simulated affymetrix simulation

• Identification of common genetic variation that modulates alternative splicing.

  PMID 17571926 · PMC1904363 · PLoS genetics · 2007 · 7 claims · 8 setups

  Full-text index only

  Common SNPs located close to intron-exon boundaries are associated with and causally modulate alternative splicing patterns in human genes

  ceph lcls skipped additional rt-pcr snp resequencing