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).

• 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

  Has reproduction · 70

  Heterozygous CHD7 mutations cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome without the CHARGE phenotype.

  ihh additional chd7 sanger targeted rt-pcr

• Genomic mutation rates: what high-throughput methods can tell us.

  PMID 19644920 · PMC2952423 · BioEssays : news and reviews in molecular, cellular and developmental biology · 2009 · 8 claims · 8 setups

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  High-throughput DNA analyses yield genome mutation rate estimates markedly higher than those obtained with pre-genomic strategies

  cerevisiae elegans melanogaster mammals fluctuation mutation indirect

• Distribution and effects of nonsense polymorphisms in human genes.

  PMID 18852891 · PMC2561068 · PloS one · 2008 · 8 claims · 8 setups

  Full-text index only

  Nonsense SNPs occur at a lower density than nonsynonymous SNPs, indicating stronger purifying selection against premature stop codons than amino acid changes.

  genome genes nonsense snps genome-wide snp codon

• Retropseudogenes derived from the human Ro/SS-A autoantigen-associated hY RNAs.

  PMID 15817567 · PMC1074747 · Nucleic acids research · 2005 · 8 claims · 8 setups

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  966 pseudogenes derived from the four human Y (hY) RNAs were characterized in the human genome

  genome chimpanzee pseudogenes genomic megablast blat sequence

• F-SNP: computationally predicted functional SNPs for disease association studies.

  PMID 17986460 · PMC2238878 · Nucleic acids research · 2008 · 6 claims · 8 setups

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  F-SNP is a database integrating functional effect predictions for SNPs from 16 bioinformatics tools/databases across four categories: splicing, transcription, translation, and post-translation

  genome protein-coding genomic genome-wide non-synonymous exonic nonsense

• Technology to accelerate pangenomic scanning for unknown point mutations in exonic sequences: cycling temperature capillary electrophoresis (CTCE).

  PMID 17697348 · PMC2042502 · BMC genetics · 2007 · 8 claims · 5 setups

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  CTCE eliminates the need for laboratory optimization of separation conditions for each exonic target sequence.

  pcr-amplified target exonic cycling ctce

• Seasonality of influenza A(H3N2) virus: a Hong Kong perspective (1997-2006).

  PMID 18648550 · PMC2481298 · PloS one · 2008 · 7 claims · 4 setups

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  Influenza A(H3N2) seasonality is largely explained by global viral migration, with similar viruses appearing in different countries at different times

  influenza same hong gene maximum-likelihood protein-coding

• Assessing the genomic evidence for conserved transcribed pseudogenes under selection.

  PMID 19754956 · PMC2753554 · BMC genomics · 2009 · 8 claims · 8 setups

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  1750 transcribed pseudogene annotations (TPAs) were identified in the human genome, ~11.5% of all human pseudogene annotations.

  genome rhesus vega-annotated tpas transcript-to-genome same synteny