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 mutations of KIT in familial testicular germ cell tumours.
PMID 15150569 · PMC2410291 · British journal of cancer · 2004 · 6 claims · 3 setups
No germline KIT mutations were found in constitutional DNA from 240 familial TGCT pedigrees
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Next-generation sequencing.
PMID 20030863 · PMC2797692 · Breast cancer research : BCR · 2009 · 8 claims · 7 setups
Massively parallel sequencing can simultaneously capture base-pair mutations, copy number aberrations and somatic rearrangements of a cancer genome in a single experiment
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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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Clues to the etiology of autoimmune diseases through analysis of immunoglobulin genes.
PMID 11879542 · PMC128918 · Arthritis research · 2002 · 8 claims · 6 setups
Antibody sequences that violate normal ontogenic/developmental constraints indicate a failure of B-cell regulation
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Global variation in copy number in the human genome.
PMID 17122850 · PMC2669898 · Nature · 2006 · 8 claims · 6 setups
A first-generation CNV map of the human genome was constructed from 270 HapMap individuals across four populations, identifying 1,447 CNV regions covering ~360 Mb (12%) of the genome.
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Mutation patterns of mtDNA: empirical inferences for the coding region.
PMID 18518963 · PMC2438339 · BMC evolutionary biology · 2008 · 5 claims · 3 setups
Heteroplasmy was detected in 6.5% (3/46) of Azorean families analyzed, all caused by new point mutations with no insertions/deletions.
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Development of a fluorescent multiplex assay for detection of MSI-High tumors.
PMID 15528789 · PMC3839403 · Disease markers · 2004 · 8 claims · 7 setups
Mononucleotide markers are the most sensitive and specific microsatellite marker type for detecting MSI-H tumors with MMR defects
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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.
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Comparative genomics comes of age.
PMID 12186641 · PMC139393 · Genome biology · 2002 · 8 claims · 8 setups
Only about 50% of conserved sequence elements (exons+introns) in orthologous human-mouse genes correspond to exons, implying substantial non-exonic conservation