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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Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.
PMID 18951463 · PMC2785447 · Human mutation · 2008 · 5 claims · 5 setups
R1070P and R1070W CFTR mutants show apical membrane localization/insertion defects consistent with their associated disease severity
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The clinical course and genetic defect in the PCFT gene in a 27-year-old woman with hereditary folate malabsorption.
PMID 18718264 · PMC3835188 · The Journal of pediatrics · 2008 · 6 claims · 5 setups
The patient carries two identical homozygous mutations (GC>AA at positions 197/198) in exon 1 of PCFT, causing a premature stop codon (C66X)
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Has reproduction · 73
Genetic polyploid phasing from low-depth progeny samples.
PMID 35692633 · PMC9184567 · iScience · 2022 · 8 claims · 7 setups
WH-PPG phases polyploid parental samples by scoring informative variant pairs with a Bayesian log-likelihood model of progeny allele depths, clustering alleles by co-occurrence likelihood, and assigning clusters to haplotypes via interval scheduling
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A novel role for mitochondria in regulating epigenetic modification in the nucleus.
PMID 18458531 · PMC2639623 · Cancer biology & therapy · 2008 · 8 claims · 6 setups
Mitochondria regulate epigenetic (DNA methylation) modification in the nucleus
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Double-strand breaks in the myotonic dystrophy type 1 and the fragile X syndrome triplet repeat sequences induce different types of mutations in DNA flanking sequences in Escherichia coli.
PMID 17012280 · PMC1636463 · Nucleic acids research · 2006 · 7 claims · 5 setups
DSBs induced at the TRS/vector junction (EcoRV site) generate numerous mutagenic events in flanking sequences, whereas DSBs within the repeat tract (EcoRI site) produce no such mutants
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A restricted spectrum of NRAS mutations causes Noonan syndrome.
PMID 19966803 · PMC3118669 · Nature genetics · 2010 · 8 claims · 6 setups
Germline NRAS mutations (T50I, G60E) cause a subset of Noonan syndrome cases via enhanced MAPK activation
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Has reproduction · 50
Comparative analysis of circular RNAs between soybean cytoplasmic male-sterile line NJCMS1A and its maintainer NJCMS1B by high-throughput sequencing.
PMID 30208848 · PMC6134632 · BMC genomics · 2018 · 8 claims · 7 setups
2867 circRNAs were identified in soybean flower buds via high-throughput sequencing with RNase R enrichment, of which 1009 were differentially expressed between NJCMS1A and NJCMS1B
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Has reproduction · 65
Lineage-specific, fast-evolving GATA-like gene regulates zygotic gene activation to promote endoderm specification and pattern formation in the Theridiidae spider.
PMID 36203191 · PMC9535882 · BMC biology · 2022 · 8 claims · 8 setups
Comparative RNA-seq of cells isolated from central, intermediate, and peripheral regions of stage-3 embryos identifies genes with locally restricted expression genome-wide
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Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis.
PMID 18682814 · PMC2493031 · Molecular vision · 2008 · 8 claims · 6 setups
dHPLC detected the paternally inherited fetal CRB1 mutation (p.Cys896ter) in maternal plasma collected at 12 weeks gestation
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Has reproduction · 100
Integrative transcriptome sequencing identifies trans-splicing events with important roles in human embryonic stem cell pluripotency.
PMID 24131564 · PMC3875859 · Genome research · 2014 · 8 claims · 8 setups
TSscan, a computational pipeline integrating long- and short-read transcriptome sequencing from multiple hESC lines, can detect trans-splicing while minimizing false positives from experimental artifacts and genetic rearrangements.
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QTL MatchMaker: a multi-species quantitative trait loci (QTL) database and query system for annotation of genes and QTL.
PMID 16381937 · PMC1347390 · Nucleic acids research · 2006 · 8 claims · 5 setups
QTL MatchMaker integrates QTL information with physical, genetic and cytogenetic maps across human, mouse and rat genomes
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Use of functional genomics to understand influenza-host interactions.
PMID 17765704 · PMC7112328 · Advances in virus research · 2007 · 8 claims · 8 setups
Functional genomics/microarray analysis provides a global view of host response to influenza infection that reveals virus-host interaction mechanisms not accessible by conventional techniques