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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Mutation analysis of the WT1 gene in myelodysplastic syndromes.
PMID 9765617 · PMC5921914 · Japanese journal of cancer research : Gann · 1998 · 7 claims · 3 setups
WT1 mutations are uncommon overall in MDS
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PAX6 gene variations associated with aniridia in south India.
PMID 15086958 · PMC419353 · BMC medical genetics · 2004 · 7 claims · 5 setups
Mutations in PAX6 cause the aniridia phenotype via haploinsufficiency (loss-of-function/null alleles)
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Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations.
PMID 18808722 · PMC2570672 · BMC medical genetics · 2008 · 8 claims · 7 setups
LQTS-associated mutations were identified in 8 of 112 families studied
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Whole-genome experimental identification of insertion/deletion polymorphisms of interspersed repeats by a new general approach.
PMID 15673711 · PMC548376 · Nucleic acids research · 2005 · 8 claims · 6 setups
A new technique combining whole-genome selective PCR amplification and subtractive hybridization can experimentally identify polymorphic retroelement insertions without prior knowledge of RE evolutionary history or sequence
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Cataloging coding sequence variations in human genome databases.
PMID 18974781 · PMC2570488 · PloS one · 2008 · 8 claims · 7 setups
A significant proportion of CVs overlap between HGMD and dbSNP (4.36% of HGMD CVs registered in dbSNP; 8.11% of dbSNP CVs registered in HGMD), warranting caution when interpreting phenotypic relevance of concurrent CVs.
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Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR.
PMID 15608400 · PMC2816285 · Journal of Korean medical science · 2004 · 7 claims · 6 setups
Developed a reliable quantitative real-time PCR assay using SMN1-specific primers, SYBR Green I dye, and the comparative Ct (ΔΔCt) method, normalized to albumin, to determine SMN1 copy number
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Genome-wide analysis of the human Alu Yb-lineage.
PMID 15588477 · PMC3525081 · Human genomics · 2004 · 8 claims · 6 setups
1,733 Alu Yb-lineage elements are present on human autosomal chromosomes
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High-throughput discovery of rare human nucleotide polymorphisms by Ecotilling.
PMID 16893952 · PMC1540726 · Nucleic acids research · 2006 · 7 claims · 6 setups
Ecotilling can be adapted to accurately discover and genotype human SNPs, with error rates low relative to resequencing
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Increased constraints on MC4R during primate and human evolution.
PMID 19011902 · PMC9947067 · Human genetics · 2009 · 6 claims · 7 setups
There is a significant paucity of genetic diversity at MC4R in humans but not in chimpanzees.
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Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library.
PMID 20037582 · PMC2951730 · Nature biotechnology · 2010 · 8 claims · 7 setups
A standardized, non-redundant library of 1,889 breakpoint-resolved SVs was assembled from eight published surveys
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A genetic variation map for chicken with 2.8 million single-nucleotide polymorphisms.
PMID 15592405 · PMC2263125 · Nature · 2004 · 8 claims · 8 setups
A genetic variation map of 2.8 million SNPs was constructed for chicken by comparing 3 domestic breeds to Red Jungle Fowl
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Has reproduction · 61
Comprehensive transcriptome study to develop molecular resources of the copepod Calanus sinicus for their potential ecological applications.
PMID 24982883 · PMC4055022 · BioMed research international · 2014 · 8 claims · 8 setups
Illumina RNA-Seq with Trinity de novo assembly produced a C. sinicus transcriptome of 69,751 contigs (average 928.8 bp, N50 1,127 bp) from 58.9 million reads.
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Candidate vaccine sequences to represent intra- and inter-clade HIV-1 variation.
PMID 19812689 · PMC2753653 · PloS one · 2009 · 7 claims · 5 setups
Natural CTL immunodominance toward variable proteome regions increases epitope mismatch with challenge strains and recapitulates the escape-driven CTL failure seen in natural infection, contributing to HIV vaccine failure