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).

• TOSCA: an automated Tumor Only Somatic CAlling workflow for somatic mutation detection without matched normal samples.

  PMID 36699358 · PMC9710689 · Bioinformatics advances · 2022 · 6 claims · 2 setups

  Has reproduction · 50

  TOSCA is the first automated, open-source, end-to-end tumor-only somatic calling workflow for WES and targeted panel sequencing data.

  t-cell hcc1395 targeted whole-exome

• Single duplex DNA sequencing with CODEC detects mutations with high sensitivity.

  PMID 37106072 · PMC10181940 · Nature genetics · 2023 · 8 claims · 8 setups

  Has reproduction · 78

  CODEC concatenates both strands of an original DNA duplex into a single NGS read pair via an adapter quadruplex and strand-displacing extension, enabling single-duplex resolution

  cfdna na12878 genomic sperm targeted whole-genome whole-exome

• Evaluation of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 genes in familial colorectal cancer predisposition.

  PMID 17029639 · PMC1624846 · BMC cancer · 2006 · 6 claims · 4 setups

  Full-text index only

  Coding sequences and intron-exon boundaries of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 were screened in 94 familial CRC cases with known genes excluded

  genomic predicted archival mutation targeted functional

• Mutations in PIK3CA are infrequent in neuroblastoma.

  PMID 16822308 · PMC1533846 · BMC cancer · 2006 · 8 claims · 6 setups

  Full-text index only

  PIK3CA activating mutations are infrequent in human neuroblastoma (2.9%, 2/69 tumors)

  neuroblastoma neuroblastoma-derived patients th-mycn targeted sanger rt-pcr

• Next-generation sequencing.

  PMID 20030863 · PMC2797692 · Breast cancer research : BCR · 2009 · 8 claims · 7 setups

  Full-text index only

  Massively parallel sequencing can simultaneously capture base-pair mutations, copy number aberrations and somatic rearrangements of a cancer genome in a single experiment

  individuals metastatic acute oestrogen whole-exome whole-genome large-scale

• 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

• Mutation analysis of the PTEN / MMAC1 gene in Japanese patients with Cowden disease.

  PMID 10920277 · PMC5926416 · Japanese journal of cancer research : Gann · 2000 · 7 claims · 4 setups

  Full-text index only

  Sequencing of all PTEN/MMAC1 coding regions identified five different germline mutations, four of them novel, in 5 of 12 unrelated Japanese CD patients

  genomic unaffected pcr targeted restriction

• A novel germline mutation of PTEN associated with brain tumours of multiple lineages.

  PMID 12085208 · PMC2746590 · British journal of cancer · 2002 · 8 claims · 6 setups

  Full-text index only

  A novel heterozygous germline PTEN mutation (Arg234Gln, R234Q) was identified in a patient with glioma and prior meningioma

  peripheral tumour u87mg baf3 pcr microsatellite proliferation

• 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

• Design and analysis issues in genome-wide somatic mutation studies of cancer.

  PMID 18692126 · PMC2820387 · Genomics · 2009 · 6 claims · 4 setups

  Full-text index only

  Two-stage (discovery + validation) sequencing designs efficiently allocate resources and can produce highly informative candidate driver gene lists even with relatively small sample sizes.

  hypothetical panel colorectal germline simulation targeted genome-wide

• Transcriptome-wide analyses of piRNA binding sites suggest distinct mechanisms regulate piRNA binding and silencing in C. elegans.

  PMID 36737102 · PMC10158993 · RNA (New York, N.Y.) · 2023 · 8 claims · 7 setups

  Has reproduction · 88

  C. elegans piRNAs preferentially bind the coding regions (CDS) of target mRNAs in vivo, rather than 3' UTRs.

  elegans clash bioinformatic iclip

• Rats go genomic.

  PMID 16522223 · PMC1431730 · Genome biology · 2006 · 7 claims · 8 setups

  Full-text index only

  A systems biology approach combining genome-wide expression profiling with expression QTL (eQTL) mapping can identify candidate genes underlying complex-disease QTLs

  recombinant genes serotonin adenomatous genome-wide targeted knockout

• A common missense variant in BRCA2 predisposes to early onset breast cancer.

  PMID 16280055 · PMC1410744 · Breast cancer research : BCR · 2005 · 7 claims · 4 setups

  Full-text index only

  BRCA2 C5972T homozygosity (TT genotype) is rare but confers a roughly five-fold increased risk of breast cancer.

  peripheral blood-derived blood case-control genotyping sequencing mutation

• Defective DNA repair and increased genomic instability in Artemis-deficient murine cells.

  PMID 12615897 · PMC2193825 · The Journal of experimental medicine · 2003 · 8 claims · 8 setups

  Full-text index only

  Artemis-deficient ES cells are severely impaired in VDJ coding joining but retain relatively normal RS (signal) joining

  recombined southern rt-pcr colony

• BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: an open resource for collaborative research.

  PMID 18704680 · PMC2775077 · Breast cancer research and treatment · 2009 · 8 claims · 8 setups

  Full-text index only

  The Breast Cancer Family Registry is an open resource for collaborative interdisciplinary and translational studies of the genetic epidemiology of breast cancer.

  breast california ashkenazi full two-dimensional denaturing

• Modeling chromosomes in mouse to explore the function of genes, genomic disorders, and chromosomal organization.

  PMID 16839184 · PMC1500809 · PLoS genetics · 2006 · 8 claims · 8 setups

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  Cre/loxP recombination in ES cells can generate megabase-scale deletions, duplications, and inversions depending on loxP orientation, cis/trans configuration, and cell cycle stage

  hybrid recombinant mice homologous cre clone

• 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

• DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.

  PMID 18987736 · PMC2603574 · Nature · 2008 · 8 claims · 8 setups

  Full-text index only

  Whole genome sequencing can identify unbiased, novel somatic mutations in a cytogenetically normal AML genome that would not have been found by candidate-gene resequencing.

  aml tumor novo additional genome snp comparative

• Mice and more.

  PMID 14519193 · PMC328447 · Genome biology · 2003 · 8 claims · 7 setups

  Full-text index only

  A multispecies weighted conservation score, which accounts for each species' divergence rate, can identify conserved non-coding sequences (multispecies conserved sequences, MCSs) likely to be biologically significant

  cftr ciona embryonic chromosome comparative genome bac-based