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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Somatic mutation of epidermal growth factor receptor in a small subset of cutaneous squamous cell carcinoma.
PMID 19812598 · PMC2825112 · The Journal of investigative dermatology · 2010 · 8 claims · 5 setups
EGFR is activated by somatic mutation in a small subset of cutaneous SCC
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Rapid detection, cloning and molecular cytogenetic characterisation of sequences from an MRP-encoding amplicon by chromosome microdissection.
PMID 8018546 · PMC2033297 · British journal of cancer · 1994 · 7 claims · 6 setups
Chromosome microdissection can be used to rapidly detect, clone and cytogenetically characterise amplified sequences from hsrs/dmins in drug-resistant cells
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MLGA--a rapid and cost-efficient assay for gene copy-number analysis.
PMID 17823203 · PMC2034490 · Nucleic acids research · 2007 · 8 claims · 4 setups
MLGA is a novel selector-based technique using multiplex ligation-dependent circularization of genomic DNA fragments for copy-number analysis
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SW-ARRAY: a dynamic programming solution for the identification of copy-number changes in genomic DNA using array comparative genome hybridization data.
PMID 15961730 · PMC1151590 · Nucleic acids research · 2005 · 7 claims · 5 setups
SW-ARRAY, an adaptation of the Smith-Waterman dynamic programming algorithm, provides a sensitive and robust method for identifying copy-number changes in array CGH data
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Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism.
PMID 19720790 · PMC2780873 · Diabetes · 2009 · 7 claims · 8 setups
INSR is disrupted by the chromosome 19 breakpoint, causing INSR haploinsufficiency (monoallelic expression) that explains the insulin resistance/dysglycemia phenotype
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Premature centromere division of the X chromosome in neurons in Alzheimer's disease.
PMID 18624923 · PMC2746937 · Journal of neurochemistry · 2008 · 8 claims · 2 setups
PCD,X frequency is significantly elevated (~3-fold) in frontal cortex neurons of sporadic AD patients compared to age-matched controls
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Free energy of DNA duplex formation on short oligonucleotide microarrays.
PMID 17169993 · PMC1807971 · Nucleic acids research · 2007 · 8 claims · 6 setups
The PDNN model, originally built for DNA/RNA hybridization, can be applied to model DNA/DNA duplex formation on SNP and genome tiling arrays
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A re-annotation pipeline for Illumina BeadArrays: improving the interpretation of gene expression data.
PMID 19923232 · PMC2817484 · Nucleic acids research · 2010 · 8 claims · 7 setups
A Perl-based pipeline that BLASTs/BLATs Illumina probe sequences against genomes and transcript databases (RefSeq, UCSC Known Genes, UniGene/GenBank, Ensembl) can classify probes by quality grade (Perfect/Good/Bad/No match) and is applicable across 8 BeadArray platforms and other array types
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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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Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region.
PMID 18226259 · PMC2268926 · BMC genomics · 2008 · 8 claims · 7 setups
GOLGA8E and WHDC1L1 are characterized for the first time as protein-coding transcripts from the PWS proximal breakpoint region.
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Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects.
PMID 19858129 · PMC3030964 · Journal of medical genetics · 2010 · 7 claims · 5 setups
Two unrelated PHP-I families each include at least one patient with a Gsα coding mutation (PHP-Ia) and another with GNAS imprinting defects (PHP-Ib)
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A genome-wide survey of segmental duplications that mediate common human genetic variation of chromosomal architecture.
PMID 15588494 · PMC3525102 · Human genomics · 2004 · 8 claims · 5 setups
PSD-mediated genomic architecture analogous to the 8p23/4p16 inversion regions is not unique to those loci but recurs genome-wide.
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Loss of heterozygosity at the 5,10-methylenetetrahydrofolate reductase locus in human ovarian carcinomas.
PMID 9099956 · PMC2222800 · British journal of cancer · 1997 · 8 claims · 7 setups
No sequence mutations were found in the MTHFR gene in ovarian tumors and cell lines despite extensive SSCP screening
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Computational comparison of two mouse draft genomes and the human golden path.
PMID 12537546 · PMC151282 · Genome biology · 2003 · 8 claims · 7 setups
The Celera and public mouse genome assemblies differ in about 10% of the mouse genome, with complementary strengths (Celera higher base-pair accuracy and overall coverage; public assembly higher quality in some finished BAC regions and freely accessible)
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Long-term survival and transmission of INI1-mutation via nonpenetrant males in a family with rhabdoid tumour predisposition syndrome.
PMID 18087273 · PMC2361463 · British journal of cancer · 2008 · 8 claims · 5 setups
The malignant brain tumours in patients III-1, III-3, and III-4, originally classified as anaplastic ependymomas, are in fact atypical teratoid/rhabdoid tumours (AT/RT)
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Has reproduction · 89
A near complete genome for goat genetic and genomic research.
PMID 34507524 · PMC8434745 · Genetics, selection, evolution : GSE · 2021 · 8 claims · 8 setups
Saanen_v1 is a high-quality de novo goat genome assembly from a male Saanen buck, including the first goat Y chromosome scaffold.
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Has reproduction · 56
The Genomic Aftermath of Hybridization in the Opportunistic Pathogen Candida metapsilosis.
PMID 26517373 · PMC4627764 · PLoS genetics · 2015 · 8 claims · 6 setups
C. metapsilosis is a highly heterozygous hybrid species formed from a single past hybridization event between two parental lineages ~4.5% divergent in sequence.
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CpG island methylation status and mutation analysis of the RB1 gene essential promoter region and protein-binding pocket domain in nervous system tumours.
PMID 12556968 · PMC2376780 · British journal of cancer · 2003 · 8 claims · 4 setups
RB1 CpG island hypermethylation is a common epigenetic event associated with development of malignant nervous system tumours
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Capturing genomic signatures of DNA sequence variation using a standard anonymous microarray platform.
PMID 17000641 · PMC1636412 · Nucleic acids research · 2006 · 8 claims · 6 setups
An anonymous SHyP oligonucleotide microarray can capture genomic signatures of DNA sequence variation from any organism, including a previously unsequenced species
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High resolution array-CGH analysis of single cells.
PMID 17178751 · PMC1807964 · Nucleic acids research · 2007 · 7 claims · 7 setups
Single copy number changes as small as 8.3 Mb can be detected reliably in single cells using GenomePlex WGA combined with high-resolution tiling-path array-CGH.