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).

• Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype.

  PMID 35296718 · PMC8927422 · Scientific reports · 2022 · 8 claims · 8 setups

  Has reproduction · 84

  Four FBN1-negative patients from three families with a MASS-like phenotype carry likely pathogenic or uncertain-significance missense variants in the propeptide-coding regions of COL2A1

  blood-derived four patients col2a1 targeted clinical transthoracic

• Horizontal transmission enables flexible associations with locally adapted symbiont strains in deep-sea hydrothermal vent symbioses.

  PMID 35349333 · PMC9168483 · Proceedings of the National Academy of Sciences of the United States of America · 2022 · 8 claims · 6 setups

  Has reproduction · 66

  Host populations of Alviniconcha and Ifremeria are not genetically differentiated across an ~800-km geographic gradient

  gill chemosynthetic host epsilon rna-seq-based metagenomic phylogenomic

• A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.

  PMID 18958306 · PMC2573734 · Molecular vision · 2008 · 8 claims · 7 setups

  Full-text index only

  The disease locus maps to chromosome 3q21-25, linked to markers D3S2322 and D3S1541

  four-generation bfsp2 wild-type microsatellite direct denaturing

• Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts.

  PMID 18334953 · PMC2268897 · Molecular vision · 2008 · 8 claims · 6 setups

  Full-text index only

  A G61C (P.G61C) missense mutation in CRYGD causes autosomal dominant congenital coralliform cataracts in this family

  four-generation genomic crygd wild-type genotyping direct denaturing

• Design considerations for workflow management systems use in production genomics research and the clinic.

  PMID 34737383 · PMC8569008 · Scientific reports · 2021 · 8 claims · 2 setups

  Has reproduction · 57

  The choice of WfMS depends both on intrinsic language/engine features and on adoption, collaboration, and technical support within bioinformatics consortia.

  local variant-calling scalability-testing

• Zinc finger nucleases: custom-designed molecular scissors for genome engineering of plant and mammalian cells.

  PMID 16251401 · PMC1270952 · Nucleic acids research · 2005 · 8 claims · 8 setups

  Full-text index only

  ZFNs combining the FokI nuclease domain with custom zinc finger proteins can deliver site-specific double-strand breaks to plant and mammalian genomes.

  foki zif268-derived coli zfns limited foot-printing x-ray

• Human genomic variation.

  PMID 11178257 · PMC138878 · Genome biology · 2000 · 8 claims · 7 setups

  Full-text index only

  Lewontin's 1972 analysis of 17 blood-group/protein loci found 85% of human genetic variation lies within individuals of a nation/tribe, 8% between populations within races, and only 6% between races

  populations individuals composite genome blood-group marker mitochondrial

• Comparing whole genomes using DNA microarrays.

  PMID 18347592 · PMC7097741 · Nature reviews. Genetics · 2008 · 8 claims · 6 setups

  Full-text index only

  DNA microarrays offer a relatively inexpensive and efficient alternative to genome sequencing for comparing all known classes of genomic diversity between closely related genomes.

  genome saccharomyces mitochondrial sars array comparative resequencing

• Towards reliable whole genome sequencing for outbreak preparedness and response.

  PMID 35945497 · PMC9361258 · BMC genomics · 2022 · 7 claims · 4 setups

  Has reproduction · 84

  Amplicon-based Nanopore sequencing can rapidly generate whole genome sequences in samples with viral load up to Ct 33.

  culture aligned amplicon-based metagenomic capture-based

• T cell receptor usage and fine specificity of human immunodeficiency virus 1-specific cytotoxic T lymphocyte clones: analysis of quasispecies recognition reveals a dominant response directed against a minor in vivo variant.

  PMID 8666925 · PMC2192525 · The Journal of experimental medicine · 1996 · 8 claims · 6 setups

  Full-text index only

  Despite heterogeneous TCR usage among clones from different HLA-B14 subjects, the fine specificity for the gp41/584-592 epitope and its variants is strikingly similar.

  gp41 hiv-1 pbmc freshly 51cr-release tcr-α limiting

• An extensive evaluation of read trimming effects on Illumina NGS data analysis.

  PMID 24376861 · PMC3871669 · PloS one · 2013 · 8 claims · 8 setups

  Has reproduction · 85

  Read trimming increases the quality and reliability of downstream NGS analyses (RNA-Seq mapping, SNP identification, genome assembly) while reducing execution time and computational resources.

  homo arabidopsis prunus saccharomyces rna-seq snp novo

• Mitochondrial diversity within modern human populations.

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

  Full-text index only

  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

• PALB2 variants in hereditary and unselected Finnish prostate cancer cases.

  PMID 20003494 · PMC2806404 · Journal of negative results in biomedicine · 2009 · 8 claims · 6 setups

  Full-text index only

  None of the detected PALB2 variants, including 1592delT, show significant association with PRCA at the population level in Finland

  blood finnish combined formalin-fixed direct additional statistical

• Backseat drivers take the wheel.

  PMID 18068625 · PMC2705833 · Cancer cell · 2007 · 8 claims · 8 setups

  Full-text index only

  Systematic resequencing combined with functional validation can distinguish rare driver FLT3 mutations from passenger mutations in AML patients negative for known activating mutations

  pretreatment baf3 additional normal targeted baf3 immunoprecipitation

• Enrichment of sequencing targets from the human genome by solution hybridization.

  PMID 19835619 · PMC2784331 · Genome biology · 2009 · 8 claims · 5 setups

  Full-text index only

  Solution hybridization with 120-mer capture probes efficiently enriches targeted genomic sequences for next-generation sequencing

  genome genomic same technical capture solution-hybridization sequence

• Genomic views of distant-acting enhancers.

  PMID 19741700 · PMC2923221 · Nature · 2009 · 8 claims · 8 setups

  Full-text index only

  Meta-analysis of ~1200 top GWAS SNPs found that in 40% of cases (472/1170) no known exons overlap the linked SNP or its haplotype block, implying noncoding variation causally contributes to many traits.

  genome patients embryos ret gwas targeted transgenic

• Polymorphism identification and improved genome annotation of Brassica rapa through Deep RNA sequencing.

  PMID 25122667 · PMC4232532 · G3 (Bethesda, Md.) · 2014 · 8 claims · 8 setups

  Has reproduction · 50

  330,995 SNPs were identified in transcribed regions between B. rapa genotypes R500 and IMB211, at an average frequency of one SNP per 200 bases.

  brassica r500 rapa genomic bulk reference-based snp