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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Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.
PMID 17436019 · PMC1914248 · Human genetics · 2007 · 7 claims · 8 setups
A homozygous 63.1-kb intragenic deletion in LARGE (exons 9-10) causes Walker-Warburg syndrome in a consanguineous Saudi family
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Proceedings of the First International Conference on Phylogenomics. March 15-19, 2006. Quebec, Canada.
PMID 17288567 · PMC1796603 · BMC evolutionary biology · 2007 · 8 claims · 8 setups
Gene tree parsimony applied to EST data with widespread gene duplication can infer an organismal phylogeny in excellent agreement with the expected angiosperm phylogeny.
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Glucocorticoid resistance in a multiple myeloma cell line is regulated by a transcription elongation block in the glucocorticoid receptor gene (NR3C1).
PMID 19133980 · PMC4303606 · British journal of haematology · 2009 · 7 claims · 6 setups
Downregulation of GR mRNA in the resistant myeloma cell line is caused by a block to transcriptional elongation within intron B of the GR gene
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Frameshift mutations in coding repeats of protein tyrosine phosphatase genes in colorectal tumors with microsatellite instability.
PMID 19000305 · PMC2586028 · BMC cancer · 2008 · 7 claims · 6 setups
16 PTP candidate genes containing coding mononucleotide repeats (cMNR) of at least 7 units were identified via bioinformatic analysis and screened in MSI-H cell lines, cancers, and adenomas
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A novel Twinkle (PEO1) gene mutation in a Chinese family with adPEO.
PMID 18989381 · PMC2579934 · Molecular vision · 2008 · 8 claims · 5 setups
Two-point linkage analysis maps this Chinese adPEO family to the PEO1 (Twinkle) locus on chromosome 10q23.3-24.3, with the other three candidate genes excluded.
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Accurate whole human genome sequencing using reversible terminator chemistry.
PMID 18987734 · PMC2581791 · Nature · 2008 · 8 claims · 7 setups
A novel sequencing platform using fluorescent reversible terminator nucleotides on clonally amplified single-molecule DNA clusters generates several billion bases of accurate sequence per experiment at low cost.
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Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.
PMID 18978956 · PMC2576482 · Molecular vision · 2008 · 7 claims · 6 setups
Mutations in GPR143 were identified in each of six Chinese OA1 families, comprising five novel mutations and one previously known mutation (c.353G>A).
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Performance of mitochondrial DNA mutations detecting early stage cancer.
PMID 18834532 · PMC2572633 · BMC cancer · 2008 · 8 claims · 6 setups
The Affymetrix MitoChip resequencing array is a high-throughput, higher-resolution alternative to capillary sequencing for detecting mtDNA point mutations and heteroplasmy in clinical specimens.
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Cardiovascular genetic medicine: genomic assessment of prognosis and diagnosis in patients with cardiomyopathy and heart failure.
PMID 20559924 · PMC4745893 · Journal of cardiovascular translational research · 2008 · 8 claims · 6 setups
Molecular signature analysis (MSA) uses machine-learning/classification methods (e.g., PAM/nearest shrunken centroids) on gene expression patterns to classify samples by phenotype for diagnosis, prognosis, or therapy response.
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Combining transcriptional profiling and genetic linkage analysis to uncover gene networks operating in hematopoietic stem cells and their progeny.
PMID 18560825 · PMC2493868 · Immunogenetics · 2008 · 8 claims · 8 setups
Neither transcriptional profiling alone nor genetic linkage analysis alone has been an effective approach to identify genes or gene networks that specify stemness or initiate differentiation/lineage specification.
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Systems analysis of bone.
PMID 20046860 · PMC2790199 · Wiley interdisciplinary reviews. Systems biology and medicine · 2009 · 8 claims · 7 setups
Fracture risk and skeletal traits are highly heritable, with over 350 QTLs mapped across the mouse genome and genes such as LRP5, Alox15, and Darc identified as regulators of bone mass.
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Has reproduction · 68
Bayesian transcriptome assembly.
PMID 25367074 · PMC4397945 · Genome biology · 2014 · 8 claims · 8 setups
Bayesembler, a probabilistic transcriptome assembler built on a Bayesian model of the RNA sequencing process with Gibbs sampling over expressed candidates, abundances and read assignments, is introduced.
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Impact of short-read sequencing on the misassembly of a plant genome.
PMID 33530937 · PMC7852129 · BMC genomics · 2021 · 7 claims · 6 setups
Short-read tomato assembly has substantial high-coverage (0.6%, 5.1 Mb) and low-coverage (9.7%, 79.6 Mb) regions relative to background coverage
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Detection of large deletions in the LDL receptor gene with quantitative PCR methods.
PMID 15842735 · PMC1087844 · BMC medical genetics · 2005 · 7 claims · 3 setups
MLPA was cheaper, more accurate and more precise than Real-Time PCR for detecting LDL receptor gene deletions
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Has reproduction · 88
Chromosome-Scale Assembly of the Complete Genome Sequence of Porcisia hertigi, Isolate C119, Strain LV43.
PMID 34647802 · PMC8515887 · Microbiology resource announcements · 2021 · 6 claims · 8 setups
The complete, chromosome-scale genome sequence of Porcisia hertigi (isolate C119, strain LV43) was assembled using combined short- and long-read sequencing technologies.
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Has reproduction · 80
Chromosome-Scale Assembly of the Complete Genome Sequence of Leishmania (Mundinia) enriettii, Isolate CUR178, Strain LV763.
PMID 34498918 · PMC8428246 · Microbiology resource announcements · 2021 · 7 claims · 7 setups
Complete chromosome-scale genome sequence of Leishmania (Mundinia) enriettii isolate CUR178, strain LV763 was assembled using combined short-read and long-read sequencing
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Has reproduction · 78
Chromosome-Scale Assembly of the Complete Genome Sequence of Leishmania (Mundinia) orientalis, Isolate LSCM4, Strain LV768.
PMID 34498920 · PMC8428255 · Microbiology resource announcements · 2021 · 6 claims · 8 setups
The complete genome sequence of Leishmania (Mundinia) orientalis, isolate LSCM4, strain LV768, was determined using combined short-read and long-read sequencing.
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Has reproduction · 81
An Erg-driven transcriptional program controls B cell lymphopoiesis.
PMID 32541654 · PMC7296042 · Nature communications · 2020 · 7 claims · 8 setups
Erg is essential for early B lymphoid differentiation
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Has reproduction · 69
Clinical and molecular correlation defines activity of physiological pathways in life-sustaining kidney xenotransplantation.
PMID 37311769 · PMC10264453 · Nature communications · 2023 · 7 claims · 8 setups
Kidney xenografts show only modest/minimal growth after transplantation into NHP recipients
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Has reproduction · 99
Free circular introns with an unusual branchpoint in neuronal projections.
PMID 31697236 · PMC6879206 · eLife · 2019 · 8 claims · 7 setups
A set of free circular introns with a non-canonical (C) branchpoint is enriched in distal neuronal projections; these appear to be tailless lariats that escape debranching.