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).
-
Full-text index only
Downregulation of death-associated protein kinase 1 (DAPK1) in chronic lymphocytic leukemia.
PMID 17540169 · PMC4647864 · Cell · 2007 · 8 claims · 13 setups
DAPK1 promoter is epigenetically silenced by DNA methylation in almost all sporadic CLL cases
-
Full-text index only
Genomics: applications in mechanism elucidation.
PMID 19166886 · PMC2698023 · Advanced drug delivery reviews · 2009 · 8 claims · 8 setups
Genomic tools require no a priori knowledge of a compound's mode of action and can reveal biological pathways (metabolism, distribution, off-target effects) in addition to the precise mechanism of action.
-
Full-text index only
A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.
PMID 19093007 · PMC2603185 · Molecular vision · 2008 · 7 claims · 5 setups
A novel mutation (1666 A>G, exon 15, S556R) in BBS7 causes BBS in this Chinese family
-
Full-text index only
Cardiovascular genomics, personalized medicine, and the National Heart, Lung, and Blood Institute: part I: the beginning of an era.
PMID 20031542 · PMC3097376 · Circulation. Cardiovascular genetics · 2008 · 7 claims · 8 setups
Rare Mendelian mutations (e.g., in sarcomere genes, ion channels, FBN1, LMNA) cause specific rare cardiovascular conditions (hypertrophic/dilated cardiomyopathy, long-QT syndrome, thoracic aortic aneurysm, progeria) but explain little of common CVD risk.
-
Full-text index only
BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: an open resource for collaborative research.
PMID 18704680 · PMC2775077 · Breast cancer research and treatment · 2009 · 8 claims · 8 setups
The Breast Cancer Family Registry is an open resource for collaborative interdisciplinary and translational studies of the genetic epidemiology of breast cancer.
-
Full-text index only
Comparative analysis reveals signatures of differentiation amid genomic polymorphism in Lake Malawi cichlids.
PMID 18616806 · PMC2530870 · Genome biology · 2008 · 8 claims · 8 setups
Lake Malawi cichlids are phenotypically and behaviorally diverse but appear genetically like a single subdivided population rather than distinct species
-
Full-text index only
Characterization, expression profiles, intracellular distribution and association analysis of porcine PNAS-4 gene with production traits.
PMID 18588709 · PMC2464599 · BMC genetics · 2008 · 8 claims · 7 setups
Porcine PNAS-4 encodes a 194-amino-acid protein that localizes to the Golgi complex
-
Full-text index only
Interpretation of genomic data: questions and answers.
PMID 18582627 · PMC2528831 · Seminars in hematology · 2008 · 8 claims · 6 setups
The main challenge in using genomic technology in cancer research is not managing the volume of data but the proper design, analysis, and reporting of studies.
-
Full-text index only
Babelomics: advanced functional profiling of transcriptomics, proteomics and genomics experiments.
PMID 18515841 · PMC2447758 · Nucleic acids research · 2008 · 8 claims · 5 setups
Babelomics is a web suite offering both conventional functional enrichment methods and more advanced gene set analysis (GSA) methods, a combination offered by only one other tool (FuncAssociate) among competitors.
-
Has reproduction · 61
Comprehensive transcriptome study to develop molecular resources of the copepod Calanus sinicus for their potential ecological applications.
PMID 24982883 · PMC4055022 · BioMed research international · 2014 · 8 claims · 8 setups
Illumina RNA-Seq with Trinity de novo assembly produced a C. sinicus transcriptome of 69,751 contigs (average 928.8 bp, N50 1,127 bp) from 58.9 million reads.
-
Full-text index only
High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians.
PMID 19900272 · PMC3091319 · Genome biology · 2009 · 7 claims · 4 setups
Custom whole-genome scan arrays (~200 bp resolution) discover CNV regions not previously reported in the literature
-
Full-text index only
Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant.
PMID 19795481 · PMC3501199 · Human mutation · 2009 · 7 claims · 8 setups
BRCA2 c.6853A>G (p.I2285V) co-occurs in trans with the deleterious founder mutation c.5946delT, supporting classification as a neutral variant
-
Full-text index only
Cone-rod dystrophy and a frameshift mutation in the PROM1 gene.
PMID 19718270 · PMC2732717 · Molecular vision · 2009 · 7 claims · 6 setups
A novel homozygous frameshift insertion in PROM1 (c.1349insT) causes cone-rod dystrophy with high myopia in this consanguineous family
-
Full-text index only
Clustering by neurocognition for fine mapping of the schizophrenia susceptibility loci on chromosome 6p.
PMID 19694819 · PMC4286260 · Genes, brain, and behavior · 2009 · 6 claims · 6 setups
A family-based clustering strategy using neurocognitive test scores (CPT, WCST) can identify more homogeneous subgroups of schizophrenia families for genetic association analysis
-
Full-text index only
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.
-
Full-text index only
The Neandertal genome and ancient DNA authenticity.
PMID 19661919 · PMC2725275 · The EMBO journal · 2009 · 8 claims · 6 setups
Only direct assays of DNA sequence positions where Neandertals differ from all contemporary humans can reliably estimate human contamination.
-
Full-text index only
The dynamic distribution of genetic tandem amplifications in a heteroresistant Escherichia coli population revealed by ultra-deep long read sequencing.
PMID 41760616 · PMC12953903 · Nature communications · 2026 · 8 claims · 6 setups
Ultra-deep Nanopore sequencing of I-SceI-linearized plasmid DNA can detect and quantify full tandem amplification arrays at single-molecule resolution down to frequencies of 10^-5
-
Full-text index only
Discrimination of three mutational events that result in a disruption of the R122 primary autolysis site of the human cationic trypsinogen (PRSS1) by denaturing high performance liquid chromatography.
PMID 11734061 · PMC60523 · BMC genetics · 2001 · 7 claims · 3 setups
DHPLC can readily discriminate the two known mutational events (c.365G>A and c.365~366GC>AT) that both cause the R122H mutation
-
Full-text index only
Risk of pancreatic cancer in families with Lynch syndrome.
PMID 19861671 · PMC4091624 · JAMA · 2009 · 7 claims · 3 setups
Families with germline MMR gene mutations (Lynch Syndrome) have an 8.6-fold increased risk of pancreatic cancer compared to the general U.S. population.
-
Full-text index only
Synaptic dysfunction and oxidative stress in Alzheimer's disease: emerging mechanisms.
PMID 16989739 · PMC3933161 · Journal of cellular and molecular medicine · 2006 · 6 claims · 8 setups
Mutations in APP, PS1 and PS2 genes and polymorphisms in the APOE gene are implicated in AD pathogenesis