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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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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Variation in conserved non-coding sequences on chromosome 5q and susceptibility to asthma and atopy.
PMID 16336695 · PMC1325232 · Respiratory research · 2005 · 6 claims · 8 setups
There is overall little sequence variation in the conserved non-coding elements (CNEs) on 5q31, including none detected in CNE-B/CNS-1
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Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese women.
PMID 19727905 · PMC2946578 · Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2010 · 7 claims · 6 setups
Multiple SNPs and haplotypes in FLNB are significantly associated with BMD at lumbar spine, femoral neck, and total hip
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SEMdag: Fast learning of Directed Acyclic Graphs via node or layer ordering.
PMID 39775401 · PMC11709272 · PloS one · 2025 · 8 claims · 5 setups
SEMdag() is a two-step order-based algorithm for fast learning of high-dimensional linear SEMs, using knowledge-based (KB) or data-driven bottom-up (BU) node/layer ordering followed by penalized (L1) DAG estimation
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Limitations in SELDI-TOF MS whole serum proteomic profiling with IMAC surface to specifically detect colorectal cancer.
PMID 19689818 · PMC2743709 · BMC cancer · 2009 · 7 claims · 3 setups
The previously reported classifier (m/z 8,132 and 4,002) failed to discriminate CRC patients from healthy volunteers in this independent validation cohort
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Characterization of the linkage disequilibrium structure and identification of tagging-SNPs in five DNA repair genes.
PMID 16091150 · PMC1208870 · BMC cancer · 2005 · 7 claims · 5 setups
Three of the five DNA repair genes (MRE11A, RAD50, XRCC4) do not conform to a contiguous haplotype block structure; instead SNPs in high LD can be non-contiguous, fitting a more flexible LD group paradigm
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Molecular tumor profiling: translating genomic insights into clinical advances.
PMID 15287965 · PMC507868 · Genome biology · 2004 · 8 claims · 8 setups
Gene-expression profiling can distinguish BRCA1- and BRCA2-linked breast tumors from sporadic breast tumors with similar hormone-receptor status
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Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study.
PMID 18539534 · PMC2832754 · The Lancet. Neurology · 2008 · 8 claims · 7 setups
LRRK2-associated PD can be distinguished from idiopathic PD by a more benign motor and non-motor phenotype
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The UCSC Genome Browser Database: 2008 update.
PMID 18086701 · PMC2238835 · Nucleic acids research · 2008 · 8 claims · 8 setups
The UCSC Genome Browser Database (GBD) provides integrated sequence and annotation data for a large collection of vertebrate and model organism genomes.
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Function2Gene: a gene selection tool to increase the power of genetic association studies by utilizing public databases and expert knowledge.
PMID 18631403 · PMC2500032 · BMC bioinformatics · 2008 · 6 claims · 5 setups
Function2Gene is a set of Perl programs that queries public databases (NCBI, GeneCards, Harvester, with Uniprot/Ensembl also supported) using expert-selected keywords to rank genes by prior probability of disease association.
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Genomics--from Neanderthals to high-throughput sequencing.
PMID 16934106 · PMC1779599 · Genome biology · 2006 · 8 claims · 8 setups
Next-generation sequencing platforms (GS20/454 and Solexa) can deliver the throughput and cost reductions needed for population-scale and medical resequencing.