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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Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies.
PMID 17953491 · PMC2039766 · PLoS genetics · 2007 · 8 claims · 5 setups
CNVs are not easily tagged by SNPs and often fall in genomic regions poorly covered by whole-genome SNP arrays or not genotyped by HapMap, so current GWASs have largely missed their contribution to complex disorders.
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High-resolution aCGH and expression profiling identifies a novel genomic subtype of ER negative breast cancer.
PMID 17925008 · PMC2246289 · Genome biology · 2007 · 7 claims · 8 setups
A novel subtype of high-grade ER-negative breast cancer exists, characterized by a low genomic instability index (GII)
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SIGMA: a system for integrative genomic microarray analysis of cancer genomes.
PMID 17192189 · PMC1764892 · BMC genomics · 2006 · 7 claims · 6 setups
SIGMA is a user-friendly, web-based Java application for visualization and integrative analysis of array CGH data across multiple platforms.
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CGHPRO -- a comprehensive data analysis tool for array CGH.
PMID 15807904 · PMC1274268 · BMC bioinformatics · 2005 · 8 claims · 3 setups
CGHPRO is a user-friendly, versatile, stand-alone Java tool for normalization, visualization, breakpoint detection and comparative analysis of array-CGH data
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Genetics of autistic disorders: review and clinical implications.
PMID 19941018 · PMC2839494 · European child & adolescent psychiatry · 2010 · 8 claims · 8 setups
AD are predominantly genetically determined disorders with heritability of around 90%.
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Human and mouse oligonucleotide-based array CGH.
PMID 16361265 · PMC1316119 · Nucleic acids research · 2005 · 8 claims · 8 setups
Oligo array CGH detects single copy gains, multi-copy amplifications, and homozygous/heterozygous deletions as small as 100 kb
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High-resolution array copy number analyses for detection of deletion, gain, amplification and copy-neutral LOH in primary neuroblastoma tumors: four cases of homozygous deletions of the CDKN2A gene.
PMID 18664255 · PMC2527340 · BMC genomics · 2008 · 8 claims · 3 setups
Affymetrix 50K/250K SNP arrays with CNAG3.0 software provide high-resolution (10-12kb) copy number and allele-specific information suitable for characterizing chromosomal rearrangements in neuroblastoma tumors
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Integration of cytogenetic landmarks into the draft sequence of the human genome.
PMID 11237021 · PMC7845515 · Nature · 2001 · 8 claims · 6 setups
7,600 cytogenetically defined landmarks (from a set of 8,877 clones) were placed on the draft sequence of the human genome as a public resource
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Divide and conquer: progress in the molecular stratification of cancer.
PMID 19718393 · PMC2730607 · Yonsei medical journal · 2009 · 8 claims · 8 setups
Cancers exhibit significant clinical, histopathologic, and molecular heterogeneity between individual patients
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Pathogenesis of vestibular schwannoma in ring chromosome 22.
PMID 19772601 · PMC2758865 · BMC medical genetics · 2009 · 8 claims · 7 setups
Tumours in ring chromosome 22 patients arise from the combination of loss of the ring chromosome (first hit) and a pathogenic somatic NF2 mutation on the remaining chromosome 22 (second hit)