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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p16 mutation spectrum in the premalignant condition Barrett's esophagus.
PMID 19043591 · PMC2585012 · PloS one · 2008 · 8 claims · 6 setups
44 of 304 Barrett's esophagus patients (14.5%) had p16 mutations (47 total mutations), with a spectrum consistent with oxidative damage and chronic inflammation
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An integrative approach to reveal driver gene fusions from paired-end sequencing data in cancer.
PMID 19881495 · PMC3086882 · Nature biotechnology · 2009 · 8 claims · 8 setups
A 'concept signature' (ConSig) score algorithm ranks genes by association with molecular concepts characteristic of fusion or mutation cancer genes, nominating biologically important fusions from large candidate sets.
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Has reproduction · 100
Differential Gene Expression and Methylation Analysis of Melanoma in TCGA Database to Further Study the Expression Pattern of KYNU in Melanoma.
PMID 35893303 · PMC9329910 · Journal of personalized medicine · 2022 · 8 claims · 8 setups
KYNU expression is decreased in melanoma despite a high KYNU mutation rate in the TCGA database
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Global variation in copy number in the human genome.
PMID 17122850 · PMC2669898 · Nature · 2006 · 8 claims · 6 setups
A first-generation CNV map of the human genome was constructed from 270 HapMap individuals across four populations, identifying 1,447 CNV regions covering ~360 Mb (12%) of the genome.
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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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Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence.
PMID 15588320 · PMC544879 · BMC genomics · 2004 · 8 claims · 8 setups
The hg16 automatic assembly of the 8p23.1 DEF locus contains misassemblies caused by segmental duplications and interindividual/intraindividual genetic variation
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Stable in a genome of instability: an interview with Evan Eichler. Interview by Jane Gitschier.
PMID 18654618 · PMC2442658 · PLoS genetics · 2008 · 8 claims · 5 setups
Loss of AGG interruptions in CGG repeat tracts predisposes FMR1 alleles to instability and faster progression toward premutation/disease state
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Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: results of genome-wide association analyses including 4659 European individuals.
PMID 20018283 · PMC2845297 · Atherosclerosis · 2010 · 8 claims · 7 setups
The ADIPOQ locus is the only major gene locus for plasma adiponectin, reaching genome-wide significance in combined and sex-stratified analyses
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A statistical change point model approach for the detection of DNA copy number variations in array CGH data.
PMID 19875853 · PMC4154476 · IEEE/ACM transactions on computational biology and bioinformatics · 2009 · 7 claims · 4 setups
A novel mean and variance change point model (MVCM) is proposed to detect CNVs/breakpoints in aCGH data.
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CARAT: a novel method for allelic detection of DNA copy number changes using high density oligonucleotide arrays.
PMID 16504045 · PMC1402331 · BMC bioinformatics · 2006 · 8 claims · 5 setups
CARAT is a novel algorithm that uses SNP probe intensity and genotype-based allelic dosage response in a regression framework to estimate allele-specific copy number genome-wide.
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Gene-resolution analysis of DNA copy number variation using oligonucleotide expression microarrays.
PMID 17470268 · PMC1868757 · BMC genomics · 2007 · 8 claims · 7 setups
graCNV uses re-annotated Affymetrix expression microarray probe sets and the WPP algorithm to measure DNA copy number variation at a median resolution of ~17,500 bp without genomic complexity reduction.
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SIGMA2: a system for the integrative genomic multi-dimensional analysis of cancer genomes, epigenomes, and transcriptomes.
PMID 18840289 · PMC2571113 · BMC bioinformatics · 2008 · 8 claims · 6 setups
SIGMA2 is a Java-based software system that integrates and visualizes genomic, epigenomic, and transcriptomic cancer data.
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Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
PMID 18752264 · PMC2577713 · Human mutation · 2008 · 8 claims · 4 setups
40% (16/40) of WWS families in this diverse cohort received a molecular diagnosis with mutations in POMT1, POMT2, FKRP or FCMD
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Whole genome distribution and ethnic differentiation of copy number variation in Caucasian and Asian populations.
PMID 19956714 · PMC2776354 · PloS one · 2009 · 8 claims · 5 setups
3,019 CNVs (2,381 autosomal, 638 X chromosome) were identified across 985 Caucasian and 692 Asian individuals using the Affymetrix 500K array
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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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Somatic mutations of the Parkinson's disease-associated gene PARK2 in glioblastoma and other human malignancies.
PMID 19946270 · PMC4002225 · Nature genetics · 2010 · 8 claims · 8 setups
PARK2 is a frequently and specifically targeted gene within recurrent 6q25.2-q27 copy number losses in glioblastoma and colon cancer
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Has reproduction
Predicting favorable landing pads for targeted integrations in Chinese hamster ovary cell lines by learning stability characteristics from random transgene integrations.
PMID 33304461 · PMC7710658 · Computational and structural biotechnology journal · 2020 · 7 claims · 6 setups
Expression stability in CHO cell lines is controlled at three levels: choice of integration site, integrity/concatemerization pattern of the transgene, and stress-related cellular processes.
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Genomic analysis of the clonal origins of relapsed acute lymphoblastic leukemia.
PMID 19039135 · PMC2746051 · Science (New York, N.Y.) · 2008 · 8 claims · 7 setups
Diagnosis and relapse ALL samples show different patterns of CNAs, with relapse-acquired abnormalities preferentially affecting cell cycle regulation and B-cell development genes
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Short tandem repeat sequences in the Mycoplasma genitalium genome and their use in a multilocus genotyping system.
PMID 18664269 · PMC2515158 · BMC microbiology · 2008 · 8 claims · 7 setups
18 STR loci (1-5 base repeat units, copy number 4-26) were identified in the M. genitalium G37 genome via bioinformatics analysis.
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Has reproduction · 91
Whole genome and transcriptome maps of the entirely black native Korean chicken breed Yeonsan Ogye.
PMID 30010758 · PMC6065499 · GigaScience · 2018 · 6 claims · 7 setups
A hybrid de novo assembly combining high-depth Illumina short reads (376.6X) and low-depth PacBio long reads (9.7X) produced the YO draft genome Ogye_1.1 with contig and scaffold NG50 of 362.3 Kbp and 16.8 Mbp.