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).

• Genomic variability within an organism exposes its cell lineage tree.

  PMID 16261192 · PMC1274291 · PLoS computational biology · 2005 · 8 claims · 5 setups

  Full-text index only

  Somatic mutations accumulated during normal development implicitly encode an organism's entire cell lineage tree with very high precision.

  robinia arabidopsis randomly genotyping multiplex computer

• COSMIC (the Catalogue of Somatic Mutations in Cancer): a resource to investigate acquired mutations in human cancer.

  PMID 19906727 · PMC2808858 · Nucleic acids research · 2010 · 8 claims · 6 setups

  Full-text index only

  COSMIC is the largest public resource for information on somatically acquired mutations in human cancer, freely available without restriction

  cancer tumour manual semi-automated candidate

• Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.

  PMID 18719945 · PMC2716558 · Human genetics · 2008 · 8 claims · 6 setups

  Full-text index only

  PCDH15 has an updated gene structure with four additional exons beyond the previously reported 35, producing isoforms in four classes with three alternative cytoplasmic domains (CD1, CD2, CD3).

  genomic retina cdna protocadherin str pcr rt-pcr

• Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.

  PMID 19744334 · PMC2754984 · Journal of translational medicine · 2009 · 8 claims · 8 setups

  Full-text index only

  GJB2 mutations account for 18.31% (52/284) of patients with nonsyndromic hearing loss

  peripheral patients mtdna slc26a4 pcr pcr-based sanger

• Associations between hepatitis B virus genotype and mutants and the risk of hepatocellular carcinoma.

  PMID 18695135 · PMC2518166 · Journal of the National Cancer Institute · 2008 · 8 claims · 7 setups

  Full-text index only

  HBV genotype C is an independent risk factor for HCC compared with genotype B

  plasma serum cohort epidemiological real-time direct radioimmunoassay

• alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption.

  PMID 19684871 · PMC2726717 · Circulation. Arrhythmia and electrophysiology · 2008 · 8 claims · 5 setups

  Full-text index only

  SNTA1 is a new susceptibility gene for LQTS

  genotype-negative hek-293 neonatal mutational patch-clamp coimmunoprecipitation

• Molecular genetic analysis of the cytochrome P450-debrisoquine hydroxylase locus and association with cancer susceptibility.

  PMID 1486838 · PMC1519624 · Environmental health perspectives · 1992 · 7 claims · 8 setups

  Full-text index only

  A PCR-RFLP DNA-based assay targeting the intron 3/exon 4 G-to-A transition can identify approximately 70-80% of CYP2D6 poor metabolizers (PMs) without drug phenotyping.

  blood pcr-rflp

• SNP identification in unamplified human genomic DNA with gold nanoparticle probes.

  PMID 15659576 · PMC548375 · Nucleic acids research · 2005 · 8 claims · 5 setups

  Full-text index only

  A microarray-based method allows multiplex SNP genotyping in total human genomic DNA without target amplification or complexity reduction

  unamplified genomic fragmented factor multiplex sequencing poly

• The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.

  PMID 19926015 · PMC2880864 · Journal of the American College of Cardiology · 2009 · 8 claims · 6 setups

  Full-text index only

  Comprehensive open-reading-frame RYR2 mutational analysis reveals possible CPVT1 mutations located outside the three canonical hot-spot domains

  genomic hair-root reference patients pcr screening multi-tissue

• A haplotype variation affecting the mitochondrial transportation of hMYH protein could be a risk factor for colorectal cancer in Chinese.

  PMID 18811933 · PMC2565682 · BMC cancer · 2008 · 7 claims · 2 setups

  Full-text index only

  The hMYH haplotype T/A variant allele is present at significantly higher frequency in CRC patients than in healthy controls

  peripheral cos-7 dhplc immunofluorescence

• Genome-wide screening of potential RNase Y-processed mRNAs in the M49 serotype Streptococcus pyogenes NZ131.

  PMID 29900693 · PMC6460267 · MicrobiologyOpen · 2019 · 8 claims · 7 setups

  Has reproduction · 57

  RNase Y selectively processes GAS mRNA, but its overall impact is confined to a limited set of virulence factor transcripts.

  streptococcus rna-seq tiling northern

• The Drosophila estrogen-related receptor promotes triglyceride storage within the larval fat body.

  PMID 40288680 · PMC12155637 · Journal of lipid research · 2025 · 8 claims · 8 setups

  Has reproduction · 88

  dERR autonomously promotes TAG accumulation within larval fat body cells

  mid-l2 larval dissected tag immunofluorescence nile

• A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.

  PMID 11476670 · PMC35353 · BMC genetics · 2001 · 8 claims · 7 setups

  Full-text index only

  The Q279R missense mutation acts as a splicing mutation in vivo, causing skipping of exon 9 (alone or with exon 8) rather than simply altering the encoded amino acid.

  microdissected resected non-tumor liver pcr-rflp immunohistochemistry western

• Multiplexed genetic analysis using an expanded genetic alphabet.

  PMID 15319316 · PMC1592527 · Clinical chemistry · 2004 · 7 claims · 6 setups

  Full-text index only

  MultiCode PLx is a three-step platform (PCR, target-specific extension, liquid chip decoding) performed in a single reaction vessel and completed in ~3 h

  genomic synthetic subset newborn multicode eracode automated

• Lack of Toll-like receptor 4 and 2 polymorphisms in Korean patients with bacteremia.

  PMID 17179672 · PMC2721950 · Journal of Korean medical science · 2006 · 7 claims · 4 setups

  Full-text index only

  No TLR4 Asp299Gly or Thr399Ile polymorphisms were detected in either bacteremia patients or healthy volunteers

  peripheral pcr bacteremia pcr-rflp sequencing blood

• Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

  PMID 16319823 · PMC1477589 · European journal of human genetics : EJHG · 2006 · 7 claims · 8 setups

  Full-text index only

  ALX4 and MSX2 mutations contribute approximately equally to PFM/CB and cause skull defects that are usually clinically indistinguishable

  pfm selected point-mutation-negative family dhplc bidirectional multiplex

• MutDB: update on development of tools for the biochemical analysis of genetic variation.

  PMID 17827212 · PMC2238958 · Nucleic acids research · 2008 · 7 claims · 5 setups

  Full-text index only

  MutDB integrates dbSNP and Swiss-Prot genetic variation data with protein structural information, functional disruption prediction scores, and clinical phenotype links (OMIM, dbGAP)

  proteins mutdb nonsynonymous genes sequence web functional

• A pre-S gene chip to detect pre-S deletions in hepatitis B virus large surface antigen as a predictive marker for hepatoma risk in chronic hepatitis B virus carriers.

  PMID 19751529 · PMC2755474 · Journal of biomedical science · 2009 · 8 claims · 5 setups

  Full-text index only

  Pre-S1 and pre-S2 deletion mutants of the HBV LHBS gene are highly associated with HBV-related HCC

  serum plasmids coli pcr oligonucleotide chip

• What have we learned from the congenital myasthenic syndromes.

  PMID 19688192 · PMC3050586 · Journal of molecular neuroscience : MN · 2010 · 8 claims · 8 setups

  Full-text index only

  CMS have been traced to mutations in at least 11 disease genes encoding proteins at the neuromuscular junction

  endplate endplates cos bacterially electron intracellular density

• Prime editing in mice reveals the essentiality of a single base in driving tissue-specific gene expression.

  PMID 33722289 · PMC7962346 · Genome biology · 2021 · 6 claims · 7 setups

  Has reproduction · 66

  A PE2-mediated single-base (C>G) substitution in the Tspan2 CArG box causes cell-specific loss of Tspan2 mRNA in aorta and bladder but not heart or brain, mirroring HDR-mediated 3-bp substitution.

  zygotes aorta genomic aortae crispr prime quantitative