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
Predicting favorable landing pads for targeted integrations in Chinese hamster ovary cell lines by learning stability characteristics from random transgene integrations.
PMID 33304461 · PMC7710658 · Computational and structural biotechnology journal · 2020 · 7 claims · 6 setups
Expression stability in CHO cell lines is controlled at three levels: choice of integration site, integrity/concatemerization pattern of the transgene, and stress-related cellular processes.
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Has reproduction · 70
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
PMID 18834967 · PMC2561938 · American journal of human genetics · 2008 · 7 claims · 6 setups
Heterozygous CHD7 mutations cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome without the CHARGE phenotype.
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Visual exploration of genetic association with voxel-based imaging phenotypes in an MCI/AD study.
PMID 19963597 · PMC2928997 · Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference · 2009 · 6 claims · 4 setups
Developed an imaging genomic browsing system allowing whole genome and entire brain analyses via visual exploration
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Improved mutation tagging with gene identifiers applied to membrane protein stability prediction.
PMID 19758467 · PMC2745585 · BMC bioinformatics · 2009 · 8 claims · 4 setups
MutationTagger achieves 87% F-measure for the mutation retrieval task on a benchmark dataset
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Has reproduction · 87
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.
PMID 39256359 · PMC11387733 · Nature communications · 2024 · 8 claims · 7 setups
Heterozygous missense or loss-of-function variants in LRRC7 cause a dominant neurodevelopmental disorder in 33 identified individuals
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Has reproduction · 92
Missense variants in human forkhead transcription factors reveal determinants of forkhead DNA bispecificity.
PMID 41124077 · PMC12795473 · Cell reports · 2025 · 6 claims · 5 setups
Non-DNA-contacting residues, especially in the loop between helices 2 and 3 and in wing 2, control mono- vs. bispecificity of FH domains for the FKH and FHL motifs
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Crystallin gene mutations in Indian families with inherited pediatric cataract.
PMID 18587492 · PMC2435160 · Molecular vision · 2008 · 8 claims · 5 setups
Crystallin gene mutations account for 16.6% of inherited pediatric cataract in this south Indian population
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Has reproduction · 80
Ancient variation of the AvrPm17 gene in powdery mildew limits the effectiveness of the introgressed rye Pm17 resistance gene in wheat.
PMID 35857869 · PMC9335242 · Proceedings of the National Academy of Sciences of the United States of America · 2022 · 6 claims · 8 setups
AvrPm17 is encoded by a paralogous, tandemly duplicated effector gene pair located in a pericentromeric, mildew sublineage-specific effector cluster (family E003) showing signs of recurring gene conversion.
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Assembling a jigsaw puzzle with 20,000 parts.
PMID 12801408 · PMC193613 · Genome biology · 2003 · 8 claims · 8 setups
Re-routing the intracellular interaction domains of receptor tyrosine kinases can redirect their signaling output, e.g. converting a growth signal into an apoptosis signal.
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The molecular landscape of ASPM mutations in primary microcephaly.
PMID 19028728 · PMC2658750 · Journal of medical genetics · 2009 · 8 claims · 7 setups
ASPM mutations are the most common cause of MCPH
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Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation.
PMID 18692127 · PMC3341170 · Genomics · 2008 · 8 claims · 7 setups
Autozygosity mapping identified a highly significant homozygous region on chromosome 13q14.11-q14.3 (Z/LOD=10.41)
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Genetic determinants of virulence in pathogenic lineage 2 West Nile virus strains.
PMID 18258114 · PMC2600181 · Emerging infectious diseases · 2008 · 8 claims · 7 setups
The nonstructural genes, especially NS5, are the most variable regions between highly and less neuroinvasive lineage 2 WNV strains
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The pharmacogenomics of membrane transporters project: research at the interface of genomics and transporter pharmacology.
PMID 19940846 · PMC2923224 · Clinical pharmacology and therapeutics · 2010 · 8 claims · 8 setups
PMT identified sequence variants in 129 membrane transporter genes in the SLC and ABC superfamilies, discovering over 3100 SNPs
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Has reproduction · 85
Ensembl 2013.
PMID 23203987 · PMC3531136 · Nucleic acids research · 2013 · 8 claims · 8 setups
Ensembl (http://www.ensembl.org) provides genome information for sequenced chordate genomes, currently supporting 70 species with a focus on human, mouse, zebrafish and rat.
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Human genetics branches out in Barcelona.
PMID 18710599 · PMC2575509 · Genome biology · 2008 · 8 claims · 8 setups
A meta-analysis of three GWAS scans (DIAGRAM) identifies new type 2 diabetes susceptibility loci (JAZF1, CDC123/CAMK1D, ADAMTS9, THADA) with modest individual effect
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Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.
PMID 18719945 · PMC2716558 · Human genetics · 2008 · 8 claims · 6 setups
PCDH15 has an updated gene structure with four additional exons beyond the previously reported 35, producing isoforms in four classes with three alternative cytoplasmic domains (CD1, CD2, CD3).
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Divide and conquer: progress in the molecular stratification of cancer.
PMID 19718393 · PMC2730607 · Yonsei medical journal · 2009 · 8 claims · 8 setups
Cancers exhibit significant clinical, histopathologic, and molecular heterogeneity between individual patients
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Kinetoplastid genomics: the thin end of the wedge.
PMID 18675383 · PMC2676795 · Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases · 2008 · 8 claims · 8 setups
Completion of the T. brucei, T. cruzi, and L. major genome sequencing projects enabled numerous studies that would otherwise have been difficult or impossible.