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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Toward accurate high-throughput SNP genotyping in the presence of inherited copy number variation.
PMID 17608949 · PMC1934372 · BMC genomics · 2007 · 7 claims · 5 setups
Developed a statistical model-fitting method to infer generalized (multi-allelic, copy-number-aware) genotypes from raw SNP microarray data
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Integrative microRNA and proteomic approaches identify novel osteoarthritis genes and their collaborative metabolic and inflammatory networks.
PMID 19011694 · PMC2582945 · PloS one · 2008 · 8 claims · 8 setups
A 16-microRNA signature (9 up, 7 down) distinguishes osteoarthritic from normal cartilage.
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Complex germline and somatic mutation processes at a haploid human minisatellite shown by single-molecule analysis.
PMID 18929582 · PMC2599865 · Mutation research · 2008 · 8 claims · 5 setups
Overall MSY1 mutation frequencies in sperm (2.68%) and blood (1.88%) are not significantly different
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Metabolism as a complex genetic trait, a systems biology approach: implications for inborn errors of metabolism and clinical diseases.
PMID 18836848 · PMC4319114 · Journal of inherited metabolic disease · 2008 · 7 claims · 8 setups
Synergistic heterozygosity — cumulative heterozygous mutations at multiple loci in functionally related metabolic pathways — can cause physiologically relevant reduction of pathway flux and disease.
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Statistical challenges in preprocessing in microarray experiments in cancer.
PMID 18829474 · PMC3529914 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2008 · 8 claims · 7 setups
Choice of pre-processing method materially changes which features are found significantly associated with survival in the Beer et al. lung cancer microarray dataset
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A novel mutation and phenotypes in phosphodiesterase 6 deficiency.
PMID 18723146 · PMC2593460 · American journal of ophthalmology · 2008 · 8 claims · 8 setups
A high-throughput arRP genotyping microarray (APEX technology) combined with sequencing can efficiently identify disease-associated alleles across 17 arRP genes in RP patients
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Proteomic analysis identifies MMP-9, DJ-1 and A1BG as overexpressed proteins in pancreatic juice from pancreatic ductal adenocarcinoma patients.
PMID 18706098 · PMC2528014 · BMC cancer · 2008 · 7 claims · 6 setups
MMP-9, DJ-1 and A1BG are overexpressed in pancreatic juice and tissue from PDAC patients compared with cancer-free/normal controls
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An integrative genomic and epigenomic approach for the study of transcriptional regulation.
PMID 18365023 · PMC2266992 · PloS one · 2008 · 8 claims · 7 setups
Integrative analysis combining gene expression, DNA methylation, and H3K9 acetylation data reveals hundreds of additional differentially expressed genes missed by gene expression arrays alone
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Next-generation sequencing.
PMID 20030863 · PMC2797692 · Breast cancer research : BCR · 2009 · 8 claims · 7 setups
Massively parallel sequencing can simultaneously capture base-pair mutations, copy number aberrations and somatic rearrangements of a cancer genome in a single experiment
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The impact of new research technologies on our understanding of environmental causes of disease: the concept of clinical vulnerability.
PMID 19948053 · PMC2793242 · Environmental health : a global access science source · 2009 · 8 claims · 8 setups
GWAS-identified genetic variants confer only modest relative risks (1.15-1.5), comparable in magnitude to weak/contested environmental exposures
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A metadata approach for clinical data management in translational genomics studies in breast cancer.
PMID 19948017 · PMC3225860 · BMC medical genomics · 2009 · 8 claims · 5 setups
A metadata/CDE-based approach using CancerGrid's semantic web tools enables automatic integration of heterogeneous clinical datasets without loss of original detail
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Serum S100A6 concentration predicts peritoneal tumor burden in mice with epithelial ovarian cancer and is associated with advanced stage in patients.
PMID 19888321 · PMC2765613 · PloS one · 2009 · 8 claims · 8 setups
Serum S100A6 concentration correlates with peritoneal tumor burden in a mouse OVCA xenograft model, based on inverse regression calibration against bioluminescent imaging data.
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A genomic approach to improve prognosis and predict therapeutic response in chronic lymphocytic leukemia.
PMID 19861443 · PMC2783430 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2009 · 8 claims · 8 setups
A genomic signature derived from CLL patient leukemic cells significantly differentiates stable from progressive disease
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Positive selection for the male functionality of a co-retroposed gene in the hominoids.
PMID 19832993 · PMC2773790 · BMC evolutionary biology · 2009 · 8 claims · 8 setups
PIPSL is an extraordinary co-retroposed protein-coding gene that may participate in male-specific functions of humans and close relatives
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The promise and reality of personal genomics.
PMID 19723346 · PMC2768970 · Genome biology · 2009 · 7 claims · 6 setups
Despite being the most complete and accurate individually sequenced human genome to date, AK1 sequencing still misses a substantial fraction of variants, showing sequencing technology remains far from complete/reliable.
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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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Has reproduction · 85
Ensembl 2013.
PMID 23203987 · PMC3531136 · Nucleic acids research · 2013 · 8 claims · 8 setups
Ensembl (http://www.ensembl.org) provides genome information for sequenced chordate genomes, currently supporting 70 species with a focus on human, mouse, zebrafish and rat.
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Translating genome sequences into biological understanding.
PMID 12801409 · PMC193614 · Genome biology · 2003 · 8 claims · 7 setups
Gene-trap insertional mutagenesis in mouse ES cells (BayGenomics) generates a large resource of cell lines and knockout mice for studying gene expression patterns and function.
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Proteomics technologies and challenges.
PMID 17893073 · PMC5054093 · Genomics, proteomics & bioinformatics · 2007 · 8 claims · 8 setups
The proteome reflects the dynamic state of a cell, tissue, or organism more accurately than the genome, so proteomics is expected to yield better disease markers for diagnosis and therapy monitoring.
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Phenotypic variation meets systems biology.
PMID 19664197 · PMC2745761 · Genome biology · 2009 · 8 claims · 8 setups
Cellular differentiation states are constrained by complex networks with substantial positive and negative regulation, challenging the concept of single 'master regulators'