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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Molecular genetics and structural genomics of the human protein kinase C gene module.
PMID 11897026 · PMC88812 · Genome biology · 2002 · 8 claims · 4 setups
The nine human PKC genes are dispersed throughout the genome, with five isotypes (α, β, δ, ζ, ι) previously incorrectly assigned to chromosomes in the literature.
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PubMatrix: a tool for multiplex literature mining.
PMID 14667255 · PMC317283 · BMC bioinformatics · 2003 · 8 claims · 3 setups
PubMatrix is a web-based CGI tool that queries PubMed with two lists of terms (search terms vs modifier terms) and returns a matrix of pairwise co-occurrence frequency counts
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Detection of chromosomal structural alterations in single cells by SNP arrays: a systematic survey of amplification bias and optimized workflow.
PMID 18074030 · PMC2111048 · PloS one · 2007 · 8 claims · 7 setups
MDA-based single-cell whole-genome amplification (S-WGA) products show large variability in amplification bias, including allele dropout and preferential amplification.
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Determination of complete chromosomal haplotypes by bulk DNA sequencing.
PMID 33957932 · PMC8101039 · Genome biology · 2021 · 8 claims · 8 setups
A hierarchical computational strategy that first builds high-confidence local haplotype blocks from long-range/linked-read linkage and then concatenates them into whole-chromosome haplotypes using Hi-C contacts
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Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.
PMID 17052327 · PMC1626071 · BMC medical genetics · 2006 · 8 claims · 8 setups
RSTS is caused by chromosomal microdeletions and point mutations in one copy of CREBBP (16p13.3), consistent with haploinsufficiency of this dosage-sensitive gene
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Analysis and visualization of chromosomal abnormalities in SNP data with SNPscan.
PMID 16420694 · PMC1382255 · BMC bioinformatics · 2006 · 8 claims · 8 setups
SNPscan is a web-accessible tool that displays SNP copy number, genotype call, and LOH p-value data together in a single plot per sample
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On the association between chromosomal rearrangements and genic evolution in humans and chimpanzees.
PMID 17971225 · PMC2246304 · Genome biology · 2007 · 8 claims · 4 setups
Genes located in rearranged chromosomes show lower non-coding (KI), synonymous (KS), and non-synonymous (KA) divergence than genes in colinear chromosomes.
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Evolutionary analysis of the highly dynamic CHEK2 duplicon in anthropoids.
PMID 18831734 · PMC2566985 · BMC evolutionary biology · 2008 · 8 claims · 6 setups
CHEK2 is present as a single copy in New World monkeys, Old World monkeys, and gibbons
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Visualization-based discovery and analysis of genomic aberrations in microarray data.
PMID 15953389 · PMC1181623 · BMC bioinformatics · 2005 · 8 claims · 7 setups
ChARMView integrates dynamic visualization with automated statistical analysis (EM-based breakpoint detection, one-sample sign test, permutation mean test) to discover chromosomal aberrations from array CGH and gene expression data
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A statistical approach for array CGH data analysis.
PMID 15705208 · PMC549559 · BMC bioinformatics · 2005 · 8 claims · 4 setups
Existing model-selection criteria (AIC, BIC, and prior ad hoc penalties) are not well adapted to estimating the number of segments in array CGH data
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Whole genome comparative studies between chicken and turkey and their implications for avian genome evolution.
PMID 18410676 · PMC2375447 · BMC genomics · 2008 · 8 claims · 7 setups
Chicken and turkey genomes differ by only two inter-chromosomal rearrangements (GGA2 orthologous to MGA3+6; GGA4 orthologous to MGA4+9), both involving centromeres.
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A naturally occurring human RPA subunit homolog does not support DNA replication or cell-cycle progression.
PMID 19942684 · PMC2817474 · Nucleic acids research · 2010 · 8 claims · 7 setups
Exogenous RPA4 expression does not support chromosomal DNA replication and causes cell-cycle arrest in G2/M
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The use of whole genome amplification to study chromosomal changes in prostate cancer: insights into genome-wide signature of preneoplasia associated with cancer progression.
PMID 16573809 · PMC1450280 · BMC genomics · 2006 · 7 claims · 8 setups
MDA-amplified DNA does not introduce major distortion of copy number imbalance assignments compared to unamplified DNA in control CGH experiments.
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The promise of biomarkers in colorectal cancer detection.
PMID 15322316 · PMC3839323 · Disease markers · 2004 · 8 claims · 8 setups
A panel/combination of biomarkers is likely to provide better predictive value for early CRC detection than any single biomarker.
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Evolution of the NANOG pseudogene family in the human and chimpanzee genomes.
PMID 16469101 · PMC1457002 · BMC evolutionary biology · 2006 · 7 claims · 5 setups
The NANOG gene and all pseudogenes except NANOGP8 occupy orthologous chromosomal positions in the chimpanzee genome, indicating they originated before the human-chimpanzee divergence.
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The genomic distribution of intraspecific and interspecific sequence divergence of human segmental duplications relative to human/chimpanzee chromosomal rearrangements.
PMID 18699995 · PMC2542386 · BMC genomics · 2008 · 8 claims · 5 setups
Some relatively recent (young) SDs accumulate in regions homologous to chromosomal inversions that occurred in the sister lineage
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Lightweight genome viewer: portable software for browsing genomics data in its chromosomal context.
PMID 17877794 · PMC2238324 · BMC bioinformatics · 2007 · 7 claims · 7 setups
lwgv provides a lightweight alternative to large genome browsers for visualizing biological annotations and dynamic analyses without requiring a database or complex software infrastructure
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Colorectal cancer genomics: evidence for multiple genotypes which influence survival.
PMID 11720434 · PMC2363933 · British journal of cancer · 2001 · 6 claims · 3 setups
Genetic grade (total number of CGH-detected gains+losses) varies greatly among Dukes' C CRC tumours and shows a multimodal (non-normal) distribution
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Complex genetic diseases: controversy over the Croesus code.
PMID 11532206 · PMC138948 · Genome biology · 2001 · 8 claims · 3 setups
The common disease/common variant hypothesis is predicted by population genetic theory (founder population dynamics, mutation-drift-selection balance) and supported by empirical examples such as APOE*E4.
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An experimental loop design for the detection of constitutional chromosomal aberrations by array CGH.
PMID 19925645 · PMC2791104 · BMC bioinformatics · 2009 · 7 claims · 3 setups
The loop design compares three patients pairwise across three hybridizations instead of each patient against a normal reference, using all arrays for informative test samples and avoiding ambiguity from benign CNVs in a reference sample.