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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cDNA sequencing improves the detection of P53 missense mutations in colorectal cancer.
PMID 19671129 · PMC2731783 · BMC cancer · 2009 · 8 claims · 6 setups
cDNA sequencing detects P53 missense mutations in colorectal cancer more frequently and reliably than DNA sequencing
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A novel mutation in the SH3BP2 gene causes cherubism: case report.
PMID 17147794 · PMC1764878 · BMC medical genetics · 2006 · 6 claims · 6 setups
A novel A1517G base change in exon 9 of SH3BP2, causing a D419G amino acid substitution, is the disease-causing mutation in this cherubism family.
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p16 mutation spectrum in the premalignant condition Barrett's esophagus.
PMID 19043591 · PMC2585012 · PloS one · 2008 · 8 claims · 6 setups
44 of 304 Barrett's esophagus patients (14.5%) had p16 mutations (47 total mutations), with a spectrum consistent with oxidative damage and chronic inflammation
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Has reproduction · 94
SOX10-regulated promoter use defines isoform-specific gene expression in Schwann cells.
PMID 32770939 · PMC7430845 · BMC genomics · 2020 · 8 claims · 5 setups
SOX10 binds preferentially at proximal promoter elements directly over TSSs in Schwann cells in vivo, identifying candidate SOX10-regulated promoters.
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Has reproduction · 77
Distributed biotin-streptavidin transcription roadblocks for mapping cotranscriptional RNA folding.
PMID 28398514 · PMC5499547 · Nucleic acids research · 2017 · 6 claims · 6 setups
A sequence-independent biotin–streptavidin (SAv) roadblocking strategy using randomly biotinylated DNA templates can stall TECs across all template positions for cotranscriptional SHAPE-Seq, simplifying template preparation and reducing cost.
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Limited copy number-high resolution melting (LCN-HRM) enables the detection and identification by sequencing of low level mutations in cancer biopsies.
PMID 19811662 · PMC2766370 · Molecular cancer · 2009 · 7 claims · 6 setups
LCN-HRM enables detection and sequencing-based characterisation of low-level mutations that are undetectable by direct sequencing alone
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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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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.
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Tumor mapping in 2 large multigenerational families with CYLD mutations: implications for disease management and tumor induction.
PMID 19917957 · PMC2935681 · Archives of dermatology · 2009 · 8 claims · 4 setups
The clinical distinction between FC, BSS, and MFT has little prognostic or clinical utility, even within the same family, warranting a unifying diagnosis of 'CYLD cutaneous syndrome'.
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Has reproduction · 88
CIRCprimerXL: Convenient and High-Throughput PCR Primer Design for Circular RNA Quantification.
PMID 36304334 · PMC9580850 · Frontiers in bioinformatics · 2022 · 8 claims · 5 setups
CIRCprimerXL is a high-throughput, user-friendly circRNA RT-qPCR primer design pipeline available as both a web tool and a standalone Nextflow/Docker pipeline
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Has reproduction · 88
nf-core/isoseq: simple gene and isoform annotation with PacBio Iso-Seq long-read sequencing.
PMID 36961337 · PMC10199315 · Bioinformatics (Oxford, England) · 2023 · 7 claims · 4 setups
nf-core/isoseq is a new automated Nextflow-based pipeline that processes raw Iso-Seq subreads through to genome annotation (BED format) without requiring transcriptome assembly.
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Back to basics.
PMID 12186643 · PMC139395 · Genome biology · 2002 · 8 claims · 8 setups
Human PDS (Pendrin) gene mutations damage ear structures and are linked to hereditary deafness and goiter
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Proposed methods for testing and selecting the ERCC external RNA controls.
PMID 16266432 · PMC1325234 · BMC genomics · 2005 · 8 claims · 5 setups
A consortium-developed, standardized set of external RNA control transcripts can be used to assess technical performance in gene expression assays (microarray and QRT-PCR)
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External contamination in single cell mtDNA analysis.
PMID 17668059 · PMC1930155 · PloS one · 2007 · 8 claims · 6 setups
External DNA contamination is a real and non-negligible problem in single-cell mtDNA sequence analysis
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High resolution melting analysis for rapid and sensitive EGFR and KRAS mutation detection in formalin fixed paraffin embedded biopsies.
PMID 18495026 · PMC2408599 · BMC cancer · 2008 · 8 claims · 4 setups
HRM correctly identified all 73 EGFR-mutation-positive FFPE samples previously found by sequencing, giving 100% sensitivity and 90% specificity
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Rapid detection of ERG11 gene mutations in clinical Candida albicans isolates with reduced susceptibility to fluconazole by rolling circle amplification and DNA sequencing.
PMID 19682357 · PMC2782262 · BMC microbiology · 2009 · 8 claims · 5 setups
The RCA assay correctly identified all ERG11 mutations in eight 'reference' azole-resistant C. albicans isolates with known mutations.
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Thirty years into the genomics era: tumor viruses led the way.
PMID 17940630 · PMC1994808 · The Yale journal of biology and medicine · 2006 · 8 claims · 8 setups
Restriction endonuclease-based analysis and sequencing of small tumor virus genomes (SV40, phiX174) established the technical framework later used to sequence bacterial and human genomes
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Description of a PCR-based technique for DNA splicing and mutagenesis by producing 5' overhangs with run through stop DNA synthesis utilizing Ara-C.
PMID 16137330 · PMC1208860 · BMC biotechnology · 2005 · 7 claims · 7 setups
Two adjacent Ara-C molecules incorporated into a PCR primer produce mild template-dependent polymerization termination, generating 5' overhangs usable for cohesive-end ligation.
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Minisequencing mitochondrial DNA pathogenic mutations.
PMID 18402672 · PMC2377236 · BMC medical genetics · 2008 · 7 claims · 7 setups
A minisequencing multiplex assay can interrogate 25 pathogenic mtDNA mutations across the whole mtDNA genome in a single reaction using 13 amplicons.
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Primase-based whole genome amplification.
PMID 18559358 · PMC2490742 · Nucleic acids research · 2008 · 8 claims · 6 setups
A primase-based Whole Genome Amplification (pWGA) method was developed using T7 gp4 primase to synthesize primers on-template, removing the requirement for synthetic primers