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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A genome annotation-driven approach to cloning the human ORFeome.
PMID 15461802 · PMC545604 · Genome biology · 2004 · 8 claims · 8 setups
Existing human cDNA clone collections together provide only 60% coverage of full-length chromosome 22 ORFs, with the best single collection (MGC) providing 48%
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Allelotype of squamous cell carcinoma of the head and neck: fractional allele loss correlates with survival.
PMID 7577465 · PMC2033926 · British journal of cancer · 1995 · 7 claims · 4 setups
Allelic imbalance/LOH occurs most frequently on chromosome arms 3p, 9p, 17p and 18q (>45% LOH) in SCCHN
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A Hidden Markov Model to estimate population mixture and allelic copy-numbers in cancers using Affymetrix SNP arrays.
PMID 17996079 · PMC2206057 · BMC bioinformatics · 2007 · 8 claims · 7 setups
An HMM using paired germline genotype calls and tumour allelic SNP intensities can estimate allele-specific copy-numbers, distinguishing events like uniparental disomy from allelic imbalance.
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MLGA--a rapid and cost-efficient assay for gene copy-number analysis.
PMID 17823203 · PMC2034490 · Nucleic acids research · 2007 · 8 claims · 4 setups
MLGA is a novel selector-based technique using multiplex ligation-dependent circularization of genomic DNA fragments for copy-number analysis
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Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma.
PMID 18989382 · PMC2579935 · Molecular vision · 2008 · 7 claims · 6 setups
Missense mutations in CYP1B1 are most likely responsible for PCG in these three Pakistani families
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Premature centromere division of the X chromosome in neurons in Alzheimer's disease.
PMID 18624923 · PMC2746937 · Journal of neurochemistry · 2008 · 8 claims · 2 setups
PCD,X frequency is significantly elevated (~3-fold) in frontal cortex neurons of sporadic AD patients compared to age-matched controls
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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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Genome Wide Association Studies: identifying the genes that determine the risk of abdominal aortic aneurysm.
PMID 18621558 · PMC2697027 · European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular Surgery · 2008 · 8 claims · 3 setups
AAA has a strong genetic component, with up to ten-fold increased risk in first-degree relatives of affected individuals
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Bacillus Calmette-Guérin Treatment Changes the Tumor Microenvironment of Non-Muscle-Invasive Bladder Cancer.
PMID 35311085 · PMC8930202 · Frontiers in oncology · 2022 · 8 claims · 8 setups
BCG therapy has bidirectional effects on tumor evolution and immune checkpoint landscape, with a significant reduction in neoantigen burden percentage in relapsed tumors
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Analysis of human sarcospan as a candidate gene for CFEOM1.
PMID 11180757 · PMC29083 · BMC genetics · 2001 · 7 claims · 5 setups
Sarcospan sequence is unmutated in all six CFEOM1 families studied
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CpG island methylation status and mutation analysis of the RB1 gene essential promoter region and protein-binding pocket domain in nervous system tumours.
PMID 12556968 · PMC2376780 · British journal of cancer · 2003 · 8 claims · 4 setups
RB1 CpG island hypermethylation is a common epigenetic event associated with development of malignant nervous system tumours
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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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Intragenic homozygous deletions of MTS1 gene in gastric cancer in Taiwan.
PMID 8957063 · PMC5921000 · Japanese journal of cancer research : Gann · 1996 · 5 claims · 4 setups
Homozygous deletions of exon 1 of the MTS1 gene were found in 5 of 55 (9.1%) primary gastric tumors.
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The human homologue of unc-93 maps to chromosome 6q27 - characterisation and analysis in sporadic epithelial ovarian cancer.
PMID 12381271 · PMC134458 · BMC genetics · 2002 · 7 claims · 8 setups
UNC93A maps within the minimal region of allele loss on 6q27 between D6S264 and D6S149, centromeric to D6S149
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A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract.
PMID 18432316 · PMC2324115 · Molecular vision · 2008 · 7 claims · 5 setups
A novel heterozygous nonsense mutation (c.C737T, p.Q223X) in CRYBB1 is responsible for autosomal dominant congenital nuclear cataract in this family.
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Unusual linkage patterns of ligands and their cognate receptors indicate a novel reason for non-random gene order in the human genome.
PMID 16277660 · PMC1309615 · BMC evolutionary biology · 2005 · 8 claims · 5 setups
Ligands are not more closely linked (shorter physical distance) to their cognate receptors than expected by chance
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BreakDancer: an algorithm for high-resolution mapping of genomic structural variation.
PMID 19668202 · PMC3661775 · Nature methods · 2009 · 8 claims · 8 setups
BreakDancer (BreakDancerMax + BreakDancerMini) is a software package that predicts a wide variety of structural variants including deletions, insertions, inversions, and intra/inter-chromosomal translocations from paired-end short-insert sequencing reads.
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Breakpoint Associated with a novel 2.3 Mb deletion in the VCFS region of 22q11 and the role of Alu (SINE) in recurring microdeletions.
PMID 16512914 · PMC1413517 · BMC medical genetics · 2006 · 8 claims · 5 setups
Patient carries a novel 2.3 Mb deletion in 22q11.2 with proximal breakpoint between RH48663/RH48348 and distal breakpoint between D22S1138/SHGC-145314
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Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.
PMID 18203199 · PMC2578871 · American journal of medical genetics. Part A · 2008 · 6 claims · 8 setups
Two novel homozygous missense mutations in BBS5 (p.Gly72Ser and p.Thr183Ala) were identified in non-Caucasian BBS patients (Somali and Sri Lankan)
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Multiple genetic alterations cause frequent and heterogeneous human histocompatibility leukocyte antigen class I loss in cervical cancer.
PMID 10727458 · PMC2193119 · The Journal of experimental medicine · 2000 · 8 claims · 8 setups
Tumor-associated HLA class I alterations were present in 90% of cervical cancer lesions tested