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).

• Sequence analysis and transcript expression of the MEN1 gene in sporadic pituitary tumours.

  PMID 10389976 · PMC2363023 · British journal of cancer · 1999 · 6 claims · 4 setups

  Full-text index only

  No MEN1 coding-region mutations were detected in any of 23 sporadic pituitary tumours with 11q13 LOH, arguing against MEN1 mutation as the mechanism of tumorigenesis in these cases

  sporadic evaluable histologically loh direct rt-pcr

• A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family.

  PMID 19038017 · PMC2611973 · BMC medical genetics · 2008 · 6 claims · 3 setups

  Full-text index only

  A novel 4-base insertion mutation (1114insGAGT) in exon 2 of CDMP1 underlies Grebe-type chondrodysplasia in this Pakistani family

  peripheral genomic microsatellite direct mutation

• Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.

  PMID 17436019 · PMC1914248 · Human genetics · 2007 · 7 claims · 8 setups

  Full-text index only

  A homozygous 63.1-kb intragenic deletion in LARGE (exons 9-10) causes Walker-Warburg syndrome in a consanguineous Saudi family

  genomic family skeletal blood microsatellite direct multiplex

• Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.

  PMID 19912631 · PMC2780402 · BMC medical genetics · 2009 · 8 claims · 6 setups

  Full-text index only

  Mutations in RAG1/2 and DCLRE1C account for around 50% and 25%, respectively, of the study cohort, a proportion much higher than previously reported series

  parental genomic anonymized peripheral microsatellite direct mutation

• Spinocerebellar ataxia type 23: a genetic update.

  PMID 19089525 · PMC2694919 · Cerebellum (London, England) · 2009 · 8 claims · 6 setups

  Full-text index only

  The SCA23 disease locus maps to chromosome 20p13-12.3, spanning ~6 Mb and containing 97 known/predicted genes.

  members post-mortem candidate coding genome-wide neuropathological southern

• Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

  PMID 18546365 · PMC2891192 · Human mutation · 2008 · 8 claims · 4 setups

  Full-text index only

  POLG mutations cause at least 6 major heterogeneous phenotypes of neurodegenerative mitochondrial disease (MCHS, Alpers syndrome, ANS, MEMSA, arPEO, adPEO)

  blood parental model sanger parental microsatellite

• Microsatellite instability analysis in hereditary non-polyposis colon cancer using the Bethesda consensus panel of microsatellite markers in the absence of proband normal tissue.

  PMID 16426447 · PMC1373649 · BMC medical genetics · 2006 · 7 claims · 4 setups

  Full-text index only

  MSI status can be determined in the absence of proband non-tumor tissue by comparing tumor alleles to alleles carried by the proband's progenitors

  proband's peripheral hmsh2 microsatellite direct targeted

• Efficacy assessment of SNP sets for genome-wide disease association studies.

  PMID 17726055 · PMC2034459 · Nucleic acids research · 2007 · 6 claims · 4 setups

  Full-text index only

  τ, derived from Shannon entropy and swept radius ɛ, approximates the relative sample size efficiency of a marker set for mapping a causal variant at a given map position compared to a maximally polymorphic SNP

  hapmap affymetrix illumina genome-wide swept comparative

• Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.

  PMID 18204449 · PMC2684619 · Nature genetics · 2008 · 8 claims · 8 setups

  Full-text index only

  Mutations in GLE1, an mRNA export mediator, cause LCCS1

  lccs1 laahd finnish healthy genomic microsatellite carrier

• Coverage and characteristics of the Affymetrix GeneChip Human Mapping 100K SNP set.

  PMID 16680197 · PMC1456318 · PLoS genetics · 2006 · 7 claims · 7 setups

  Full-text index only

  SNPs in the Affymetrix 100K set are undersampled from coding regions (both synonymous and nonsynonymous) and oversampled from regions outside genes, relative to HapMap SNPs

  genome autosomal hapmap chromosome snp chromosomal minor

• The EPHA2 gene is associated with cataracts linked to chromosome 1p.

  PMID 19005574 · PMC2582197 · Molecular vision · 2008 · 5 claims · 5 setups

  Full-text index only

  A heterozygous c.2842G>T (p.G948W) mutation in EPHA2 exon 17 causes autosomal dominant posterior polar cataracts in family Mu

  family case-control genome-wide str pcr

• Long-range regulation is a major driving force in maintaining genome integrity.

  PMID 19682388 · PMC2741452 · BMC evolutionary biology · 2009 · 7 claims · 5 setups

  Full-text index only

  Long-range transcriptional regulation is a major driving force in maintaining genome integrity by constraining where chromosomal breakpoints can become fixed.

  opossum genome comparative identification statistical

• WNT10B mutations in human obesity.

  PMID 16477437 · PMC4304000 · Diabetologia · 2006 · 8 claims · 8 setups

  Full-text index only

  The WNT10B C256Y missense mutation abrogates the protein's ability to activate canonical WNT signalling and block adipogenesis

  genomic 3t3-l1 subject proband dhplc top-flash western

• Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis.

  PMID 18802454 · PMC2527686 · PLoS genetics · 2008 · 8 claims · 6 setups

  Full-text index only

  Three heterozygous missense mutations (p.M337V, p.N345K, p.I383V) in exon 6 of TARDBP were identified in familial ALS patients

  patients nd10588 lymphoblastoid neuroglioma sanger taqman copy-number

• Genotyping of genetically monomorphic bacteria: DNA sequencing in Mycobacterium tuberculosis highlights the limitations of current methodologies.

  PMID 19915672 · PMC2772813 · PloS one · 2009 · 8 claims · 8 setups

  Full-text index only

  MLSA of 89 genes across 108 global MTBC strains yields a single, highly robust phylogeny with virtually no homoplasy, congruent across parsimony, NJ, ML, and Bayesian methods.

  global mtbc miru-vntr multilocus spoligotyping 15-loci-miru-vntr

• DFAST and DAGA: web-based integrated genome annotation tools and resources.

  PMID 27867804 · PMC5107635 · Bioscience of microbiota, food and health · 2016 · 8 claims · 7 setups

  Has reproduction · 89

  DFAST is a web-based bacterial genome annotation and DDBJ submission pipeline with integrated CheckM quality assessment and ANI taxonomic assessment.

  lactobacillus genomes representative raw genome ortholog average

• binny: an automated binning algorithm to recover high-quality genomes from complex metagenomic datasets.

  PMID 36239393 · PMC9677464 · Briefings in bioinformatics · 2022 · 8 claims · 8 setups

  Has reproduction · 67

  binny outperforms or is highly competitive with commonly used and state-of-the-art binning methods (MetaBAT2, MaxBin2, CONCOCT, VAMB, SemiBin, MetaDecoder)

  cami real-world metagenomic binned genome binning mag

• Endotoxin-tolerant mice have mutations in Toll-like receptor 4 (Tlr4).

  PMID 9989976 · PMC2192941 · The Journal of experimental medicine · 1999 · 8 claims · 8 setups

  Full-text index only

  The Lps locus was fine-mapped to a 0.9-cM interval spanning a 1.7-Mb genomic contig on mouse chromosome 4.

  c3h genomic bac multiple-tissue genetic yac direct

• Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1.

  PMID 17511870 · PMC1888713 · BMC genetics · 2007 · 8 claims · 5 setups

  Full-text index only

  Most individuals with CFEOM1 and rare individuals with CFEOM3 harbor heterozygous mutations in KIF21A

  genomic pedigree proband pcr denaturing dhplc

• Taxonomic and functional metagenomic assessment of a Dolichospermum bloom in a large and deep lake south of the Alps.

  PMID 39227168 · PMC11412076 · FEMS microbiology ecology · 2024 · 5 claims · 8 setups

  Has reproduction · 83

  A near-complete metagenome-assembled genome (MAG) of Dolichospermum lemmermannii (FEM_B0920) was recovered from a Lake Garda bloom and clarified the species' taxonomic position within the genus Dolichospermum and the ADA group.

  dolichospermum filter fem_b0920 lake shotgun cyanotoxin phylogenomic