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).

• A restricted spectrum of NRAS mutations causes Noonan syndrome.

  PMID 19966803 · PMC3118669 · Nature genetics · 2010 · 8 claims · 6 setups

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  Germline NRAS mutations (T50I, G60E) cause a subset of Noonan syndrome cases via enhanced MAPK activation

  cohort cos-7 recombinant nras mutation western ras

• Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia.

  PMID 19775295 · PMC2783282 · British journal of haematology · 2009 · 8 claims · 4 setups

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  ELANE mutations were detected in 90 of 162 SCN patients (55.6%), making it the most commonly mutated gene in SCN.

  peripheral whole-genome-amplified gfi1 sanger high-throughput sift

• Development of an integrated genome informatics, data management and workflow infrastructure: a toolbox for the study of complex disease genetics.

  PMID 15601538 · PMC3525068 · Human genomics · 2004 · 8 claims · 8 setups

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  An integrated system combining Ensembl, ACeDB, Gbrowse and custom relational databases provides a scalable genome informatics and workflow infrastructure for complex disease gene discovery.

  pcr candidate embl clinical snp manual homology

• An integrative genomic and proteomic analysis of PIK3CA, PTEN, and AKT mutations in breast cancer.

  PMID 18676830 · PMC2680495 · Cancer research · 2008 · 8 claims · 5 setups

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  PIK3CA mutations are more common in hormone receptor-positive and HER2-positive tumors than in basal-like breast cancers

  breast hormone early-stage mass sanger reverse-phase

• Malaria genomics meets drug-resistance phenotyping in the field.

  PMID 19664295 · PMC2745762 · Genome biology · 2009 · 8 claims · 8 setups

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  Significantly longer parasite clearance times in Pailin (western Cambodia) versus Wang Pha (Thailand-Myanmar border) establish the presence of artemisinin resistance in western Cambodia.

  falciparum plasmodium drug clinical high-throughput