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).

• BRCA1 and BRCA2 mutations in central and southern Italian patients.

  PMID 11056688 · PMC13918 · Breast cancer research : BCR · 2000 · 8 claims · 4 setups

  Full-text index only

  Deleterious germline BRCA1/BRCA2 mutations were detected in 11 of 136 (8%) unrelated Italian breast/ovarian cancer probands.

  genomic peripheral truncation single-strand direct

• No germline mutations in supposed tumour suppressor genes SAFB1 and SAFB2 in familial breast cancer with linkage to 19p.

  PMID 19077293 · PMC2635354 · BMC medical genetics · 2008 · 8 claims · 5 setups

  Full-text index only

  SAFB1 and SAFB2 had previously been proposed as tumour suppressor genes in breast cancer based on functional properties (ERα repression) and loss of heterozygosity in tumours

  germline genomic identified individuals sequencing pcr mlpa

• Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.

  PMID 18948357 · PMC3044481 · Journal of medical genetics · 2009 · 8 claims · 6 setups

  Full-text index only

  TGM1 germline mutations were identified in 55% (57/104) of patients with ARCI

  arci unrelated dog direct sequence blast

• 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

• Interpretation of genomic data: questions and answers.

  PMID 18582627 · PMC2528831 · Seminars in hematology · 2008 · 8 claims · 6 setups

  Full-text index only

  The main challenge in using genomic technology in cancer research is not managing the volume of data but the proper design, analysis, and reporting of studies.

  genetically wound tumor breast gene expression comparative

• Metapipeline-DNA: A comprehensive germline and somatic genomics Nextflow pipeline.

  PMID 41850291 · PMC13030954 · Cell reports methods · 2026 · 8 claims · 7 setups

  Full-text index only

  Metapipeline-DNA automates germline and somatic DNA sequencing analysis end-to-end, from raw reads through preprocessing, feature detection, QC, and visualization.

  pcawg giab pcawg-5 tumor-normal whole-genome germline somatic

• MSI test to distinguish between HNPCC and other predisposing syndromes -- of value in tailored surveillance.

  PMID 15528791 · PMC3839337 · Disease markers · 2004 · 8 claims · 5 setups

  Full-text index only

  MSI (or immunohistochemistry) testing applied to a pre-selected patient with a family history or early-onset colorectal cancer can distinguish HNPCC from unknown non-HNPCC colorectal cancer syndromes.

  population-based swedish colorectal hnpcc clinical histopathological microsatellite

• Mutation survey of known LCA genes and loci in the Saudi Arabian population.

  PMID 18936139 · PMC2695987 · Investigative ophthalmology & visual science · 2009 · 7 claims · 4 setups

  Full-text index only

  Mutations in the 13 known LCA genes were identified in only 24% (9/37) of Saudi Arabian LCA families, far lower than the ~65% mutation detection rate reported in European populations

  leukocyte affected kkesh-060 direct str homozygosity

• Alpseq: an open-source workflow to turbocharge nanobody discovery with high-throughput sequencing.

  PMID 41631412 · PMC12885427 · mAbs · 2026 · 8 claims · 8 setups

  Full-text index only

  alpseq is an open-source, end-to-end workflow combining a PCR-free sequencing library prep protocol with a Nextflow pre-processing pipeline and an R-based analysis/reporting module for nanobody NGS data.

  nanobody raw hanke candidate pcr-free bioinformatic comparison

• Neuronal Small RNAs Control Behavior Transgenerationally.

  PMID 31178120 · PMC6579485 · Cell · 2019 · 8 claims · 8 setups

  Has reproduction · 49

  Neuron-specific synthesis of RDE-4-dependent small RNAs regulates germline amplified endogenous siRNAs and germline gene expression for multiple generations

  elegans prab-3 dissected worms small sequencing facs

• BRCA1 mutations in southern England.

  PMID 9649133 · PMC2150412 · British journal of cancer · 1998 · 7 claims · 4 setups

  Full-text index only

  Early age of onset combined with a strong family history is the most effective selection criterion for detecting BRCA1 mutations, more so than bilaterality alone

  genomic pcr clinical heteroduplex sequencing pcr

• Somatic deletion of the NF1 gene in a neurofibromatosis type 1-associated malignant melanoma demonstrated by digital PCR.

  PMID 16961930 · PMC1570477 · Molecular cancer · 2006 · 8 claims · 6 setups

  Full-text index only

  Somatic deletion of the maternal NF1 allele occurred in the melanoma of an NF1 patient, demonstrating biallelic NF1 inactivation.

  peripheral microdissected formalin-fixed microsatellite conventional digital

• FISH and SNP-A karyotyping in myelodysplastic syndromes: improving cytogenetic detection of del(5q), monosomy 7, del(7q), trisomy 8 and del(20q).

  PMID 19758696 · PMC2826525 · Leukemia research · 2010 · 7 claims · 4 setups

  Full-text index only

  MC, FISH, and SNP-A are complementary techniques whose combined use improves diagnostic yield for detecting del(5q), -7/del(7q), trisomy 8, and del(20q) in MDS

  bone pellets extracted cd3+ metaphase fluorescence snp

• The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers.

  PMID 15743497 · PMC1064126 · Breast cancer research : BCR · 2005 · 7 claims · 5 setups

  Full-text index only

  The AR CAG repeat polymorphism does not modify breast cancer risk in BRCA1 mutation carriers

  peripheral brca1 same simulated fluorescent cox weighted

• Development of a fluorescent multiplex assay for detection of MSI-High tumors.

  PMID 15528789 · PMC3839403 · Disease markers · 2004 · 8 claims · 7 setups

  Full-text index only

  Mononucleotide markers are the most sensitive and specific microsatellite marker type for detecting MSI-H tumors with MMR defects

  colorectal blood healthy non-msi-h microsatellite fluorescent immunohistochemistry

• Intricate targeting of immunoglobulin somatic hypermutation maximizes the efficiency of affinity maturation.

  PMID 15867095 · PMC2213188 · The Journal of experimental medicine · 2005 · 7 claims · 6 setups

  Full-text index only

  IgVH genes have evolved precise placement of coding-strand Cs so that AID-induced C-to-T mutations are predominantly silent, especially in the CDRs.

  igvh germline non-igv immunogenetics flow cdna bioinformatic

• Programmed genetic instability: a tumor-permissive mechanism for maintaining the evolvability of higher species through methylation-dependent mutation of DNA repair genes in the male germ line.

  PMID 18535014 · PMC2464741 · Molecular biology and evolution · 2008 · 8 claims · 7 setups

  Full-text index only

  Repair genes are numerically less common than apoptosis genes in the genomes of multicellular organisms

  yeast familial human-mouse comparative gene mutation

• Cell-type- and chromosome-specific chromatin landscapes and DNA replication programs of Drosophila testis tumor stem cell-like cells.

  PMID 41371963 · PMC12758400 · Genome research · 2026 · 8 claims · 6 setups

  Full-text index only

  GSC-like and CySC-like cells isolated from upd tumor testes are transcriptionally comparable to wild-type GSC/early-spermatogonia and CySC clusters, respectively

  upd gsc-like wild-type scrna-seq differential gene

• Quasimonomorphic mononucleotide repeats for high-level microsatellite instability analysis.

  PMID 15528790 · PMC3888729 · Disease markers · 2004 · 8 claims · 8 setups

  Full-text index only

  Mononucleotide repeats are more sensitive, specific, and easier to use than dinucleotide repeats for detecting MSI-H tumors

  msi-h colon hmsh6-mutated tumors pentaplex pcr dinucleotide

• DOT1L activity limits transcription elongation velocity and favors RNAPII pausing to facilitate mutagenesis by AID.

  PMID 41526379 · PMC12905297 · Nature communications · 2026 · 8 claims · 8 setups

  Full-text index only

  DOT1L and super elongation complex (SEC) components are proximal to nuclear AID by BioID

  flp-in ch12f3 dot1l-deficient splenic bioid shrna rt-qpcr