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).

• Chromosome-wide identification of novel imprinted genes using microarrays and uniparental disomies.

  PMID 16855283 · PMC1524921 · Nucleic acids research · 2006 · 8 claims · 5 setups

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  Four novel brain-specific paternally expressed transcripts (BB077283, BM117114, AK080843, AV328498) were identified and validated on proximal Chr 7.

  tissues inter-subspecies placenta genomic microarray rt-pcr sequencing

• 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

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  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

• Two novel missense mutations in the myostatin gene identified in Japanese patients with Duchenne muscular dystrophy.

  PMID 17428346 · PMC1855920 · BMC medical genetics · 2007 · 7 claims · 5 setups

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  Two novel missense mutations in the myostatin gene (p.95D>H and p.156L>I) were identified in Japanese DMD patients

  genomic pcr elbow peripheral pcr subcloning gel

• Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.

  PMID 18697827 · PMC3711528 · Journal of medical genetics · 2008 · 8 claims · 8 setups

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  Four novel JARID1C mutations (p.A77T, p.V504M, p.E468GfsX2, p.R1481GfsX9) were identified in males with mental retardation across three screened cohorts.

  genomic family carrier jarid1c dhplc allele-specific restriction

• SNP-specific extraction of haplotype-resolved targeted genomic regions.

  PMID 18611953 · PMC2528194 · Nucleic acids research · 2008 · 6 claims · 4 setups

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  SNP-specific extraction isolates haploid genomic DNA flanking targeted SNPs by hybridizing an allele-specific oligo, enzymatically extending it with biotinylated nucleotides, and capturing the tagged allele with streptavidin-coated magnetic particles.

  genomic diploid quantitative sanger low

• An intergenic non-coding rRNA correlated with expression of the rRNA and frequency of an rRNA single nucleotide polymorphism in lung cancer cells.

  PMID 19838300 · PMC2759515 · PloS one · 2009 · 8 claims · 7 setups

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  An nc-rRNA is transcribed from the intergenic spacer upstream of the rRNA transcription start site in human lung epithelial and lung cancer cells, spanning roughly -1000 to at least +203/+300.

  lung hpl1d rrna external pcr rt-pcr quantitative

• Oncogene mutations, copy number gains and mutant allele specific imbalance (MASI) frequently occur together in tumor cells.

  PMID 19826477 · PMC2757721 · PloS one · 2009 · 8 claims · 8 setups

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  Homozygous mutations of oncogenes are frequent (20%) across 833 cancer cell lines of 12 tumor types in the Sanger database

  tumors cancer tumor lung direct database quantitative

• Mechanisms of relapse in acute leukaemia: involvement of p53 mutated subclones in disease progression in acute lymphoblastic leukaemia.

  PMID 10098750 · PMC2362216 · British journal of cancer · 1999 · 6 claims · 4 setups

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  p53 mutations are detected at relapse far more frequently in ALL (28.6%) than in AML (7.3%)

  bone presentation b-cells direct allele-specific igh

• PAX6 gene variations associated with aniridia in south India.

  PMID 15086958 · PMC419353 · BMC medical genetics · 2004 · 7 claims · 5 setups

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  Mutations in PAX6 cause the aniridia phenotype via haploinsufficiency (loss-of-function/null alleles)

  genomic pcr aniridia sscp automated allele-specific

• Two previously proposed P1/P2-differentiating and nine novel polymorphisms at the A4GALT (Pk) locus do not correlate with the presence of the P1 blood group antigen.

  PMID 16212661 · PMC1282566 · BMC genetics · 2005 · 8 claims · 4 setups

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  The previously proposed P2-specific markers -551_-550insC and -160A>G do not correlate with P1/P2 phenotype, since they occur homozygously in many P1 individuals too

  genomic erythrocytes direct pcr pcr-asp

• CARAT: a novel method for allelic detection of DNA copy number changes using high density oligonucleotide arrays.

  PMID 16504045 · PMC1402331 · BMC bioinformatics · 2006 · 8 claims · 5 setups

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  CARAT is a novel algorithm that uses SNP probe intensity and genotype-based allelic dosage response in a regression framework to estimate allele-specific copy number genome-wide.

  normal genomic sk-br-3 cancer snp quantitative allele-specific

• Detection of mutations in EGFR in circulating lung-cancer cells.

  PMID 18596266 · PMC3551471 · The New England journal of medicine · 2008 · 8 claims · 7 setups

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  The CTC-chip microfluidic device isolates CTCs from NSCLC patients in sufficient quantity and purity to permit EGFR mutational analysis

  blood archived nsclc plasma microfluidic allele-specific standard

• Paternal imprinting of the SLC22A1LS gene located in the human chromosome segment 11p15.5.

  PMID 15175115 · PMC425576 · BMC genetics · 2004 · 6 claims · 3 setups

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  The SLC22A1LS gene is paternally imprinted (i.e., only the maternal allele is expressed).

  genomic pcr cdna pcr-sscp sequencing

• A novel BRCA-1 mutation in Arab kindred from east Jerusalem with breast and ovarian cancer.

  PMID 17233897 · PMC1784098 · BMC cancer · 2007 · 5 claims · 3 setups

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  A novel BRCA1 nonsense mutation, E1373X, in exon 12 was identified in a Palestinian Arab family with breast and ovarian cancer.

  leukocyte pcr genomic dhplc direct allele-specific

• High-resolution array copy number analyses for detection of deletion, gain, amplification and copy-neutral LOH in primary neuroblastoma tumors: four cases of homozygous deletions of the CDKN2A gene.

  PMID 18664255 · PMC2527340 · BMC genomics · 2008 · 8 claims · 3 setups

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  Affymetrix 50K/250K SNP arrays with CNAG3.0 software provide high-resolution (10-12kb) copy number and allele-specific information suitable for characterizing chromosomal rearrangements in neuroblastoma tumors

  neuroblastoma snp multiplex

• Genome-wide kinetic properties of transcriptional bursting in mouse embryonic stem cells.

  PMID 32596448 · PMC7299619 · Science advances · 2020 · 8 claims · 8 setups

  Has reproduction · 57

  Transcriptional bursting kinetics is regulated by a combination of promoter- and gene body-binding proteins, including the polycomb repressive complex 2 (PRC2) and transcription elongation factors

  cast knock-in mesc mescs single-cell single-molecule flow

• An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.

  PMID 25914166 · PMC4830354 · American journal of medical genetics. Part A · 2015 · 7 claims · 8 setups

  Has reproduction

  HRAS c.179G>A (p.Gly60Asp) causes an attenuated Costello syndrome phenotype without severe failure-to-thrive, intellectual disability, or cancer predisposition

  cos-7 transiently patients parental ras co-immunoprecipitation immunoblotting

• Novel selection and genetic characterisation of an etoposide-resistant human leukaemic CCRF-CEM cell line.

  PMID 8382508 · PMC1968246 · British journal of cancer · 1993 · 8 claims · 5 setups

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  CEM/VP-1 is 15-fold more resistant to etoposide than parental CCRF-CEM cells

  ccrf-cem cem nuclear cytogenetic pcr allele-specific

• Multiple genetic alterations cause frequent and heterogeneous human histocompatibility leukocyte antigen class I loss in cervical cancer.

  PMID 10727458 · PMC2193119 · The Journal of experimental medicine · 2000 · 8 claims · 8 setups

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  Tumor-associated HLA class I alterations were present in 90% of cervical cancer lesions tested

  cervical frozen genomic peripheral multiparameter flow immunohistochemistry

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

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

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  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