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).

• 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

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  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

• Detection of large deletions in the LDL receptor gene with quantitative PCR methods.

  PMID 15842735 · PMC1087844 · BMC medical genetics · 2005 · 7 claims · 3 setups

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  MLPA was cheaper, more accurate and more precise than Real-Time PCR for detecting LDL receptor gene deletions

  genomic real-time multiplex long-range

• A robust approach to identifying tissue-specific gene expression regulatory variants using personalized human induced pluripotent stem cells.

  PMID 19911041 · PMC2766639 · PLoS genetics · 2009 · 8 claims · 7 setups

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  Padlock probes combined with high-throughput sequencing enable accurate, quantitative, low-bias digital RNA allelotyping of allele-specific expression

  genomic pgp1 skin fibroblasts padlock quantitative gene

• Identification of a novel lncRNA prognostic signature and analysis of functional lncRNA AC115619.1 in hepatocellular carcinoma.

  PMID 37614318 · PMC10442647 · Frontiers in pharmacology · 2023 · 8 claims · 8 setups

  Has reproduction · 87

  A six-lncRNA prognostic signature (LINC02428, LINC02163, AC008549.1, AC115619.1, CASC9, LINC02362) predicts overall survival in HCC patients

  hcc tcga paired snu-449 lncrna sequencing univariate

• Uncovering information on expression of natural antisense transcripts in Affymetrix MOE430 datasets.

  PMID 17598913 · PMC1929078 · BMC genomics · 2007 · 8 claims · 4 setups

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  Standard Affymetrix expression GeneChips (MOE430, HG-U133) contain probe sets that detect natural antisense transcripts (NATs)

  moe430 pooled organs probe strand-specific microarray

• Multiplex amplification of all coding sequences within 10 cancer genes by Gene-Collector.

  PMID 17317684 · PMC1874629 · Nucleic acids research · 2007 · 7 claims · 7 setups

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  Gene-Collector is a method for multiplex nucleic acid amplification that specifically circularizes only correctly paired (cognate) PCR primer products on a Collector probe, degrading non-cognate artifacts by exonuclease treatment.

  genomic multiplex circularized circular multiplex probe-guided exonuclease

• A well-conserved Plasmodium falciparum var gene shows an unusual stage-specific transcript pattern.

  PMID 12787360 · PMC2869446 · Molecular microbiology · 2003 · 8 claims · 8 setups

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  Full-length var transcripts (detected by the complex var exon 2 probe) are present only in ring stages, not in pigmented trophozoites, across multiple parasite lines

  falciparum red northern static rt-pcr

• MLGA--a rapid and cost-efficient assay for gene copy-number analysis.

  PMID 17823203 · PMC2034490 · Nucleic acids research · 2007 · 8 claims · 4 setups

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  MLGA is a novel selector-based technique using multiplex ligation-dependent circularization of genomic DNA fragments for copy-number analysis

  pooled genomic aneuploid dog mlga

• Five recurrent BRCA1/2 mutations are responsible for cancer predisposition in the majority of Slovenian breast cancer families.

  PMID 18783588 · PMC2547096 · BMC medical genetics · 2008 · 8 claims · 5 setups

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  Five recurrent mutations (1806C>T, 300T>G, 300T>A, 5382insC in BRCA1; IVS16-2A>G in BRCA2) are responsible for the majority of BRCA1/2-positive Slovenian families

  leucocyte slovenian truncation denaturing multiplex

• Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism.

  PMID 19720790 · PMC2780873 · Diabetes · 2009 · 7 claims · 8 setups

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  INSR is disrupted by the chromosome 19 breakpoint, causing INSR haploinsufficiency (monoallelic expression) that explains the insulin resistance/dysglycemia phenotype

  metaphase genomic ebv-transformed serum fluorescence multiplex sanger

• Association between telomere length and V(H) gene mutation status in chronic lymphocytic leukaemia: clinical and biological implications.

  PMID 12592375 · PMC2377180 · British journal of cancer · 2003 · 7 claims · 5 setups

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  Unmutated VH gene CLL cases have significantly shorter telomeres than mutated VH gene CLL cases

  cll subset pcr southern real-time

• Lineage-specific gene duplication and loss in human and great ape evolution.

  PMID 15252450 · PMC449870 · PLoS biology · 2004 · 8 claims · 7 setups

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  Genome-wide interspecies cDNA aCGH can identify lineage-specific gene copy number changes across five hominoid species

  bonobo chimpanzee gorilla orangutan cdna fluorescence literature-based

• BRCA1 and BRCA2 mutation predictions using the BOADICEA and BRCAPRO models and penetrance estimation in high-risk French-Canadian families.

  PMID 16417652 · PMC1413985 · Breast cancer research : BCR · 2006 · 8 claims · 7 setups

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  BOADICEA predicts accurately the number of BRCA1 and BRCA2 mutations across family groups and discriminates well between carriers and noncarriers

  french-canadian families brca1-positive same targeted full-length multiplex

• Differential recruitment of pre-mRNA splicing factors to alternatively spliced transcripts in vivo.

  PMID 16231974 · PMC1262628 · PLoS biology · 2005 · 8 claims · 8 setups

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  Distinct combinations of pre-mRNA splicing factors are recruited to sites of alternatively spliced transcripts in intact cells, providing the first in vivo evidence for differential splicing factor association.

  cos-1 cos-7 tau10-1 rt-pcr quantitative rna-fish

• Increased DNA microarray hybridization specificity using sscDNA targets.

  PMID 15847692 · PMC1090574 · BMC genomics · 2005 · 7 claims · 5 setups

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  A single round of ribo-SPIA amplification produces sufficient sscDNA for microarray hybridization from as little as 5 ng of starting total RNA

  cuhr k562 input sscdna microarray quantitative capillary

• Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.

  PMID 17076561 · PMC1626556 · PLoS medicine · 2006 · 6 claims · 7 setups

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  Affected members of a previously genetically unsolved aHUS family carry a heterozygous CFH/CFHL1 hybrid gene (exons 1-21 from CFH, exons 22/23 from CFHL1)

  peripheral genomic convalescent cdna genomic breakpoint-spanning

• A simple and robust method for connecting small-molecule drugs using gene-expression signatures.

  PMID 18518950 · PMC2464610 · BMC bioinformatics · 2008 · 8 claims · 4 setups

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  A new method for building reference gene-expression profiles and scoring/testing connections improves on the original Connectivity Map by enabling statistical significance testing of connections.

  lines random gene-expression connectivity

• High resolution analysis of the human transcriptome: detection of extensive alternative splicing independent of transcriptional activity.

  PMID 19804644 · PMC2768739 · BMC genetics · 2009 · 8 claims · 6 setups

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  The human GWSA uses exon body and exon-exon junction probes to directly measure over 280,000 known and predicted splicing events genome-wide.

  universal same lim erythrocyte genome-wide cross-platform rt-pcr

• The future is genome-wide.

  PMID 16934105 · PMC1779592 · Genome biology · 2006 · 8 claims · 8 setups

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  Noncoding SNPs near NRG1 associated with schizophrenia likely act by influencing NRG1 expression level

  schizophrenia myocardial individuals infectious genetic candidate gene

• 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