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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Has reproduction · 89
Evaluating sequence data quality from the Swift Accel-Amplicon CFTR Panel.
PMID 31913291 · PMC6949293 · Scientific data · 2020 · 6 claims · 7 setups
The Accel-Amplicon CFTR panel generates sequencing data with high coverage depth and near 100% on-target reads.
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Investigations on a clinically and functionally unusual and novel germline p53 mutation.
PMID 12085209 · PMC2746598 · British journal of cancer · 2002 · 8 claims · 7 setups
A novel germline 7 base pair insertion in exon 5 of p53 (causing frameshift from codon 161 with a stop at codon 182) was identified in a patient with osteosarcoma at age 22 and choroid plexus papilloma at age 29.
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Adaptation to different human populations by HIV-1 revealed by codon-based analyses.
PMID 16789820 · PMC1480537 · PLoS computational biology · 2006 · 8 claims · 8 setups
Developed two fixed effects maximum likelihood methods: one to detect selection that persists in a population (internal vs. terminal branches) and one to detect differential selection on codons between two populations.
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Has reproduction · 91
Genome-wide identification of conserved and novel microRNAs in one bud and two tender leaves of tea plant (Camellia sinensis) by small RNA sequencing, microarray-based hybridization and genome survey scaffold sequences.
PMID 29157210 · PMC5697157 · BMC plant biology · 2017 · 7 claims · 8 setups
175 conserved and 83 novel miRNAs were identified mainly in one bud and two tender leaves of tea plant via small RNA sequencing combined with genome survey data
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Has reproduction · 78
Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage.
PMID 32367296 · PMC7419486 · Journal of neurology · 2020 · 8 claims · 6 setups
Sequence variants in PCNT, RNF213 and THSD1 support a role as susceptibility factors for cerebrovascular disease (UIA/aSAH)
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Has reproduction
Genomic prediction based on selective linkage disequilibrium pruning of low-coverage whole-genome sequence variants in a pure Duroc population.
PMID 37853325 · PMC10583454 · Genetics, selection, evolution : GSE · 2023 · 8 claims · 6 setups
Selective linkage disequilibrium pruning (SLDP) refines whole-genome SNP sets using GWAS prior information to improve genomic prediction accuracy.
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No germline mutations in supposed tumour suppressor genes SAFB1 and SAFB2 in familial breast cancer with linkage to 19p.
PMID 19077293 · PMC2635354 · BMC medical genetics · 2008 · 8 claims · 5 setups
SAFB1 and SAFB2 had previously been proposed as tumour suppressor genes in breast cancer based on functional properties (ERα repression) and loss of heterozygosity in tumours
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Mutation survey of known LCA genes and loci in the Saudi Arabian population.
PMID 18936139 · PMC2695987 · Investigative ophthalmology & visual science · 2009 · 7 claims · 4 setups
Mutations in the 13 known LCA genes were identified in only 24% (9/37) of Saudi Arabian LCA families, far lower than the ~65% mutation detection rate reported in European populations
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Has reproduction · 91
Insights into the evolution of cotton diploids and polyploids from whole-genome re-sequencing.
PMID 23979935 · PMC3789805 · G3 (Bethesda, Md.) · 2013 · 8 claims · 8 setups
An index of 23,859,893 (~24 million) homoeo-SNPs distinguishing A-genome from D-genome cotton was constructed at a density of one SNP per 32.3 bases of the D5 reference.
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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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Has reproduction · 84
Expression Atlas update--a database of gene and transcript expression from microarray- and sequencing-based functional genomics experiments.
PMID 24304889 · PMC3964963 · Nucleic acids research · 2014 · 8 claims · 6 setups
Expression Atlas is a value-added database providing gene, protein and splice variant expression across cell types, organism parts, developmental stages, diseases and other biological/experimental conditions, built from manually curated high-quality microarray and RNA-sequencing experiments from ArrayExpress.
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Candidate target genes for loss of heterozygosity on human chromosome 17q21.
PMID 15187990 · PMC2409524 · British journal of cancer · 2004 · 8 claims · 5 setups
JUP (plakoglobin) is the only identified gene physically located between the D17S746 and D17S846 markers that define the smallest common region of LOH on chromosome 17q21
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Medical sequencing of candidate genes for nonsyndromic cleft lip and palate.
PMID 16327884 · PMC1298935 · PLoS genetics · 2005 · 8 claims · 8 setups
Point mutations in FOXE1, GLI2, JAG2, LHX8, MSX1, MSX2, SATB2, SKI, SPRY2, and TBX10 may be rare causes of isolated CL/P
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The diploid genome sequence of an individual human.
PMID 17803354 · PMC1964779 · PLoS biology · 2007 · 7 claims · 6 setups
Generated an independently assembled diploid human genome sequence (HuRef) from both chromosome sets of a single individual using whole-genome shotgun Sanger sequencing
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The Genographic Project public participation mitochondrial DNA database.
PMID 17604454 · PMC1904368 · PLoS genetics · 2007 · 7 claims · 4 setups
The Genographic Project created the largest standardized human mtDNA database to date, comprising 78,590 genotypes from the first 18 months of public participation.
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Sequencing the regulatory genome.
PMID 18598374 · PMC2481419 · Genome biology · 2008 · 8 claims · 8 setups
Nuclear-lamina-associated domains (LADs) define chromatin regions with distinct transcriptional characteristics (fewer, lower-expressed genes, low RNA Pol II occupancy, H3K27me3-enriched borders)
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DNA sequencing: bench to bedside and beyond.
PMID 17855400 · PMC2094077 · Nucleic acids research · 2007 · 8 claims · 7 setups
DNA sequencing methods derived from Sanger's 1977 dideoxy method have dominated sequencing for 30 years despite being only incrementally refined.
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IgVH genes from different anatomical regions, with different histopathological patterns, of a rheumatoid arthritis patient suggest cyclic re-entry of mature synovial B-cells in the hypermutation process.
PMID 11056671 · PMC17813 · Arthritis research · 2000 · 8 claims · 5 setups
Somatically mutated IgVH genes with amino acid deletions and mixed IgV molecules were found in all three anatomical regions, suggesting a novel pathway for generating (auto)antibody specificities
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From Pasteur to genomics: progress and challenges in infectious diseases.
PMID 15516917 · PMC7096024 · Nature medicine · 2004 · 8 claims · 8 setups
Genomic sequencing has revealed the blueprint of most pathogens, enabling new diagnostics, therapeutics and vaccines including for previously uncultivable agents.
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Has reproduction · 43
StatsDB: platform-agnostic storage and understanding of next generation sequencing run metrics.
PMID 24627795 · PMC3938176 · F1000Research · 2013 · 8 claims · 6 setups
StatsDB is an open-source software package for storage and analysis of next generation sequencing run metrics, backed by an SQL (MySQL) database with Perl and Java APIs.