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).
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BRCA1 mutations in southern England.
PMID 9649133 · PMC2150412 · British journal of cancer · 1998 · 7 claims · 4 setups
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
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Analysis of copy number variation using quantitative interspecies competitive PCR.
PMID 18697816 · PMC2553599 · Nucleic acids research · 2008 · 7 claims · 6 setups
qicPCR uses the entire genome of a single chimpanzee as a competitor, requiring only one reference sample for all assays and enabling large-scale multiplexing
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MutScreener: primer design tool for PCR-direct sequencing.
PMID 16845093 · PMC1538803 · Nucleic acids research · 2006 · 8 claims · 4 setups
MutScreener is a web-based application that automates PCR-direct sequencing assay design by annotating gene structure and designing PCR and sequencing primers.
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Mutations of the beta- and gamma-catenin genes are uncommon in human lung, breast, kidney, cervical and ovarian carcinomas.
PMID 11437403 · PMC2363927 · British journal of cancer · 2001 · 7 claims · 4 setups
β-catenin and γ-catenin gene mutations are uncommon in human lung, breast, kidney, cervical and ovarian carcinomas
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Leveraging human genomic information to identify nonhuman primate sequences for expression array development.
PMID 16288651 · PMC1314899 · BMC genomics · 2005 · 8 claims · 6 setups
Human genomic DNA sequence can be leveraged to obtain 3' end sequence of NHP orthologs, which can then be used to generate NHP oligonucleotide microarrays
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The minisequencing method: a simple strategy for genetic screening of MEN 2 families.
PMID 12042015 · PMC116428 · BMC genetics · 2002 · 6 claims · 4 setups
Minisequencing reproduces the same mutation information obtained by direct sequencing of PCR products at RET codons 634 and 918 in all tested MEN 2 family members.
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A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.
PMID 18978954 · PMC2576480 · Molecular vision · 2008 · 8 claims · 6 setups
A C>A transversion in exon 2 of CERKL (c.316C>A) causes a missense change p.R106S in the nuclear localization signal sequence (KLKRR) of the protein.
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RExPrimer: an integrated primer designing tool increases PCR effectiveness by avoiding 3' SNP-in-primer and mis-priming from structural variation.
PMID 19958502 · PMC2788391 · BMC genomics · 2009 · 7 claims · 4 setups
RExPrimer integrates local SNP, indel, pseudogene, and CNV/structural variation databases with the Primer3 core algorithm to avoid mis-priming and SNP-in-Primer effects.
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INI1 mutations in meningiomas at a potential hotspot in exon 9.
PMID 11161377 · PMC2363707 · British journal of cancer · 2001 · 6 claims · 5 setups
A recurrent somatic INI1 mutation (G1130A, Arg377His) occurs at a hotspot in exon 9 in a subset of meningiomas.
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Paternal imprinting of the SLC22A1LS gene located in the human chromosome segment 11p15.5.
PMID 15175115 · PMC425576 · BMC genetics · 2004 · 6 claims · 3 setups
The SLC22A1LS gene is paternally imprinted (i.e., only the maternal allele is expressed).
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A novel approach for determining cancer genomic breakpoints in the presence of normal DNA.
PMID 17440616 · PMC1847701 · PloS one · 2007 · 8 claims · 6 setups
PAMP enriches deletion-breakpoint-spanning DNA because shorter mutant amplicons are preferentially amplified over much longer wild-type sequences when using approximated flanking primer pairs.
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Ligase detection reaction for the analysis of point mutations using free-solution conjugate electrophoresis in a polymer microfluidic device.
PMID 19053073 · PMC3010182 · Electrophoresis · 2008 · 8 claims · 7 setups
LDR-FSCE (combining LDR with free-solution conjugate electrophoresis) enables single-base resolution separation of LDR products without a polymer sieving matrix
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Identification of transcription start sites and preferential expression of select CB2 transcripts in mouse and human B lymphocytes.
PMID 19757078 · PMC2843092 · Journal of neuroimmune pharmacology : the official journal of the Society on NeuroImmune Pharmacology · 2009 · 7 claims · 8 setups
Human B cells express one CB2 transcript while mouse B cells express three CB2 transcripts
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Ovarian cancer has frequent loss of heterozygosity at chromosome 12p12.3-13.1 (region of TEL and Kip1 loci) and chromosome 12q23-ter: evidence for two new tumour-suppressor genes.
PMID 9155043 · PMC2228239 · British journal of cancer · 1997 · 8 claims · 4 setups
Two commonly deleted regions on chromosome 12 were identified in ovarian cancer: 12p12.3-13.1 (6/23 samples) and 12q23-ter (7/23 samples)
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Genomic structure and alterations of homeobox gene CDX2 in colorectal carcinomas.
PMID 10027310 · PMC2362430 · British journal of cancer · 1999 · 8 claims · 6 setups
CDX2 expression is decreased in colorectal carcinomas in prior studies
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Molecular epidemiology of DFNB1 deafness in France.
PMID 15070423 · PMC385234 · BMC medical genetics · 2004 · 8 claims · 7 setups
35delG remains the most common pathogenic GJB2 mutation in the studied French (Languedoc Roussillon) population despite being less frequent than in other Mediterranean populations
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A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family.
PMID 18432314 · PMC2329669 · Molecular vision · 2008 · 6 claims · 5 setups
A novel homozygous splice-site mutation, c.1495+2_1495+3insT, in the donor splice-site of TULP1 intron 14 underlies autosomal recessive early-onset RP in family TB13.
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Analysis of the p53 gene by PCR-SSCP in ten cases of Wilms' tumor.
PMID 10772697 · PMC11166235 · Sao Paulo medical journal = Revista paulista de medicina · 2000 · 7 claims · 3 setups
Point mutations of the p53 gene (exons 5-9) were not detected in any of the 10 Wilms' tumor samples studied
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Target SNP selection in complex disease association studies.
PMID 15248903 · PMC487897 · BMC bioinformatics · 2004 · 7 claims · 3 setups
A computational pipeline can retrieve gene sequence, collect SNP variation data, and annotate SNPs falling in functional motifs (promoter, exon-intron structure, AU-rich elements, TF binding sites, splice sites) with expression in target tissue
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PrimerSeq: Design and visualization of RT-PCR primers for alternative splicing using RNA-seq data.
PMID 24747190 · PMC4411361 · Genomics, proteomics & bioinformatics · 2014 · 8 claims · 3 setups
PrimerSeq is a user-friendly stand-alone software with a GUI for systematic design and visualization of RT-PCR primers for alternative splicing analysis using user-provided RNA-seq data.