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).

• Additional EFNB1 mutations in craniofrontonasal syndrome.

  PMID 18627045 · PMC2774847 · American journal of medical genetics. Part A · 2008 · 8 claims · 4 setups

  Full-text index only

  Loss-of-function mutations in EFNB1 (Xq13.1) are the cause of CFNS in the majority of patients

  lymphoblastoid cfns patients additional pcr multiplex molecular

• Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer.

  PMID 16280053 · PMC1410737 · Breast cancer research : BCR · 2005 · 8 claims · 8 setups

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  There is no evidence that highly penetrant exonic or splice site mutations in FANCD2, BRIP1/BACH1, LMO4 or SFN contribute to familial breast cancer

  germline lymphoblastoid dhplc sequencing rt-pcr

• GenomeTrafac: a whole genome resource for the detection of transcription factor binding site clusters associated with conventional and microRNA encoding genes conserved between mouse and human gene orthologs.

  PMID 17178752 · PMC1781107 · Nucleic acids research · 2007 · 8 claims · 5 setups

  Full-text index only

  GenomeTrafac is a web-accessible database enabling genome-wide detection of conserved cis-element clusters in human-mouse gene orthologs, covering both conventional and microRNA genes

  human-mouse genome blastz-aligned itgb1bp2 comparative transcription sequence

• Mitochondrial diversity within modern human populations.

  PMID 17439969 · PMC1888801 · Nucleic acids research · 2007 · 8 claims · 5 setups

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  Modern humans show extremely low divergence from the mitochondrial consensus sequence, differing on average by only 21.6 nucleotide sites

  full-length mitochondrial mtdna additional sequence site-by-site regional

• A target enrichment method for gathering phylogenetic information from hundreds of loci: An example from the Compositae.

  PMID 25202605 · PMC4103609 · Applications in plant sciences · 2014 · 8 claims · 8 setups

  Has reproduction · 87

  A custom sequence capture probe set (9678 baits targeting 1061 orthologous genes) was designed to enrich COS loci across the Compositae.

  compositae same species helianthus targeted genome genomic

• Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage.

  PMID 32367296 · PMC7419486 · Journal of neurology · 2020 · 8 claims · 6 setups

  Has reproduction · 78

  Sequence variants in PCNT, RNF213 and THSD1 support a role as susceptibility factors for cerebrovascular disease (UIA/aSAH)

  unrelated affected additional 75-patient exome sanger gene

• Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.

  PMID 17668063 · PMC1925147 · PloS one · 2007 · 8 claims · 7 setups

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  Mutations in UBIAD1 are causal for Schnyder crystalline corneal dystrophy

  pedigrees pedigree genomic ubiad1 microsatellite fine direct

• A novel de novo PAX6 mutation in an Ashkenazi-Jewish family with aniridia.

  PMID 18334930 · PMC2255027 · Molecular vision · 2008 · 7 claims · 5 setups

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  A novel heterozygous de novo PAX6 frameshift mutation (c.577_578insG, insG@Gly72) in exon 6 causes autosomal dominant aniridia with congenital cataract, nystagmus, and glaucoma in this family.

  genomic pax6 direct microsatellite blast

• Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.

  PMID 20023659 · PMC2980844 · Nature genetics · 2010 · 8 claims · 8 setups

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  Mutations in INF2, a formin family actin-regulating protein, cause autosomal dominant focal segmental glomerulosclerosis (FSGS)

  families genes individuals kidney genome-wide sanger resequencing

• DG-CST (Disease Gene Conserved Sequence Tags), a database of human-mouse conserved elements associated to disease genes.

  PMID 15608249 · PMC539965 · Nucleic acids research · 2005 · 5 claims · 8 setups

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  Comparative human-mouse genome analysis identifies conserved sequence tags (CSTs, >=70% identity over >=100bp) that frequently correspond to non-coding elements with putative regulatory or structural roles

  identified cst csts comparative coding exon

• Identification of common genetic variation that modulates alternative splicing.

  PMID 17571926 · PMC1904363 · PLoS genetics · 2007 · 7 claims · 8 setups

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  Common SNPs located close to intron-exon boundaries are associated with and causally modulate alternative splicing patterns in human genes

  ceph lcls skipped additional rt-pcr snp resequencing

• SysZNF: the C2H2 zinc finger gene database.

  PMID 18974185 · PMC2686507 · Nucleic acids research · 2009 · 7 claims · 6 setups

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  SysZNF is a database that systematically catalogs C2H2-ZNF genes in human and mouse with physical location, gene models, expression probes, protein domains, homologs, and literature links

  user-defined hmm domain all-to-all

• Exome sequencing identifies the cause of a mendelian disorder.

  PMID 19915526 · PMC2847889 · Nature genetics · 2010 · 8 claims · 7 setups

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  Exome sequencing of a small number of unrelated affected individuals, combined with filtering against public SNP databases and HapMap exomes, is sufficient to identify the causal gene for a monogenic disorder of unknown etiology.

  patients chromosomes dhodh utero exome directed sanger

• Pairagon+N-SCAN_EST: a model-based gene annotation pipeline.

  PMID 16925839 · PMC1810554 · Genome biology · 2006 · 7 claims · 5 setups

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  Pairagon+N-SCAN_EST, using only native alignments, was as accurate as ENSEMBL and ExoGean in the EGASP mRNA/EST evidence assessment

  encode genome cdna-to-genome novo comparative

• HITS-CLIP yields genome-wide insights into brain alternative RNA processing.

  PMID 18978773 · PMC2597294 · Nature · 2008 · 8 claims · 8 setups

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  HITS-CLIP, combining CLIP with high-throughput sequencing, provides a genome-wide, unbiased method to map protein-RNA interactions in vivo.

  neocortex brain 293t hits-clip traditional exon

• RNA-Seq transcriptome profiling of upland cotton (Gossypium hirsutum L.) root tissue under water-deficit stress.

  PMID 24324815 · PMC3855774 · PloS one · 2013 · 8 claims · 8 setups

  Has reproduction · 38

  A total of 1,530 transcripts were differentially expressed between well-watered and water-deficit stressed field-grown upland cotton root tissues (913 up-regulated, 617 down-regulated).

  gossypium uppermost root reads bulk leaf rt-qpcr

• Transduplication resulted in the incorporation of two protein-coding sequences into the turmoil-1 transposable element of C. elegans.

  PMID 18842128 · PMC2572040 · Biology direct · 2008 · 8 claims · 6 setups

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  The Turmoil-1 transposable element in C. elegans incorporated two unrelated protein-coding sequences into its inverted terminal repeats (ITRs)

  turmoil-1 rrm elegans predicted pairwise maximum genome-wide