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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More breast cancer genes?
PMID 11305950 · PMC138680 · Breast cancer research : BCR · 2001 · 8 claims · 7 setups
A new high-risk breast cancer gene termed BRCAX may exist on chromosome 13q, identified via CGH and linkage analysis in Nordic families
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Comparative analysis reveals signatures of differentiation amid genomic polymorphism in Lake Malawi cichlids.
PMID 18616806 · PMC2530870 · Genome biology · 2008 · 8 claims · 8 setups
Lake Malawi cichlids are phenotypically and behaviorally diverse but appear genetically like a single subdivided population rather than distinct species
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Molecular genetic diagnosis of von Hippel-Lindau disease: analysis of five Japanese families.
PMID 8641976 · PMC5921130 · Japanese journal of cancer research : Gann · 1996 · 5 claims · 3 setups
Four of five Japanese VHL disease families showed germ line VHL gene mutations, comprising 2 missense mutations, 1 deletion, and 1 splice-site mutation
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Comprehensive splice-site analysis using comparative genomics.
PMID 16914448 · PMC1557818 · Nucleic acids research · 2006 · 8 claims · 6 setups
Over half a million splice sites were collected from five species (H. sapiens, M. musculus, D. melanogaster, C. elegans, A. thaliana) and classified into four main subtypes: U2-type GT-AG and GC-AG, and U12-type GT-AG and AT-AC.
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VarDetect: a nucleotide sequence variation exploratory tool.
PMID 19091032 · PMC2638149 · BMC bioinformatics · 2008 · 8 claims · 2 setups
VarDetect is a stand-alone software tool that automatically detects nucleotide variation (SNPs) from fluorescence-based chromatogram traces using pre-calculated peak content ratios and artifact-handling rules.
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Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes.
PMID 17655765 · PMC1950490 · BMC medical genetics · 2007 · 8 claims · 3 setups
No coding mutations were found in NR2E1 or SNX3 in five patients with MMEP or related phenotypes
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Detecting imbalanced expression of SNP alleles by minisequencing on microarrays.
PMID 15500681 · PMC529269 · BMC biotechnology · 2004 · 8 claims · 7 setups
Both microarray minisequencing formats accurately quantify SNP allele ratios, with R2 > 0.95 for the majority of regression lines
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Paired-end mapping reveals extensive structural variation in the human genome.
PMID 17901297 · PMC2674581 · Science (New York, N.Y.) · 2007 · 8 claims · 8 setups
Paired-end mapping (PEM) combining 3-kb fragment paired-end capture, massive 454 sequencing, and computational mapping detects SVs ~3 kb or larger with an average breakpoint resolution of 644 bp
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A novel GCAP1(N104K) mutation in EF-hand 3 (EF3) linked to autosomal dominant cone dystrophy.
PMID 18706439 · PMC2584361 · Vision research · 2008 · 8 claims · 7 setups
A novel N104K mutation in GCAP1's third EF-hand (EF3) motif was identified in two affected members of a family with autosomal dominant cone dystrophy, the first naturally occurring mutation in the EF3 Ca2+-binding loop.
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Systems biology of gene regulation fulfills its promise.
PMID 16719937 · PMC1779525 · Genome biology · 2006 · 8 claims · 8 setups
Suz12, a Polycomb Group complex component, has DNA targets identifiable by ChIP-chip and can silence large genomic regions in a cell-type-specific manner.
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Genetic diversity among five T4-like bacteriophages.
PMID 16716236 · PMC1524935 · Virology journal · 2006 · 8 claims · 8 setups
A core set of 82 conserved genes (T4-like genes) is present in all five genomes analyzed, clustered in large collinear blocks.
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Single nucleotide polymorphisms in bone turnover-related genes in Koreans: ethnic differences in linkage disequilibrium and haplotype.
PMID 18036257 · PMC2222243 · BMC medical genetics · 2007 · 8 claims · 5 setups
Resequencing 81 candidate osteoporosis genes in 24 Koreans identified 942 variants (888 SNPs, 43 indels, 11 microsatellites)
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Rapid detection and curation of conserved DNA via enhanced-BLAT and EvoPrinterHD analysis.
PMID 18307801 · PMC2268679 · BMC genomics · 2008 · 8 claims · 8 setups
eBLAT detects up to 75% more conserved bases than original BLAT alignments, with the largest gains between evolutionarily distant orthologs
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Has reproduction · 61
TEMP: a computational method for analyzing transposable element polymorphism in populations.
PMID 24753423 · PMC4066757 · Nucleic acids research · 2014 · 8 claims · 8 setups
TEMP combines pair-end (discordant) read and split (soft-clipped) read information to identify both presence and absence of TE insertions in genomic DNA from heterogeneous/pooled samples.
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Has reproduction · 50
MoDLE: high-performance stochastic modeling of DNA loop extrusion interactions.
PMID 36451166 · PMC9710047 · Genome biology · 2022 · 7 claims · 6 setups
MoDLE is a high-performance stochastic model that simulates DNA-DNA contacts from loop extrusion genome-wide in minutes using less than 1 GB of RAM
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Gene-centric characteristics of genome-wide association studies.
PMID 18060058 · PMC2092383 · PloS one · 2007 · 8 claims · 5 setups
High-density SNP chips using either direct or indirect selection approaches provide very high coverage in genic regions and capture most known common disease variants under the HapMap framework.
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SNPdetector: a software tool for sensitive and accurate SNP detection.
PMID 16261194 · PMC1274293 · PLoS computational biology · 2005 · 7 claims · 7 setups
SNPdetector, which models human visual inspection of sequencing traces, achieves low false positive and false negative rates in automated SNP and mutation detection
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The Bifidobacterium dentium Bd1 genome sequence reflects its genetic adaptation to the human oral cavity.
PMID 20041198 · PMC2788695 · PLoS genetics · 2009 · 8 claims · 8 setups
The B. dentium Bd1 genome was sequenced to completion, revealing a single circular 2,636,368 bp chromosome with 2,143 predicted ORFs
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Genome assembly comparison identifies structural variants in the human genome.
PMID 17115057 · PMC2674632 · Nature genetics · 2006 · 7 claims · 7 setups
Genome assembly comparison is a robust approach for identifying all classes of genetic variation, with no lower size limit.