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).

• TP73 allelic expression in human brain and allele frequencies in Alzheimer's disease.

  PMID 15175114 · PMC420466 · BMC medical genetics · 2004 · 8 claims · 6 setups

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  A -386G/A SNP in the TP73 P3 promoter is weakly but significantly associated with AD risk in a tri-ethnic elderly population.

  brain peripheral sk-nsh-n genomic rt-pcr direct snp

• Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion.

  PMID 15045028 · PMC374243 · PLoS biology · 2004 · 8 claims · 6 setups

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  The ASPM gene shows accelerated (positively selected) evolution in the African hominoid clade, and this acceleration precedes hominid brain expansion by several million years.

  chimpanzee retrofitted primate aspm tar restriction genomic

• Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies.

  PMID 16254605 · PMC1270012 · PLoS genetics · 2005 · 8 claims · 6 setups

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  Comparative net alignment of human and chimpanzee genome assemblies identifies 1,576 putative inverted regions covering more than 154 Mb of DNA

  build chimpanzee unrelated ceph comparative three-color pcr

• A comparison across non-model animals suggests an optimal sequencing depth for de novo transcriptome assembly.

  PMID 23496952 · PMC3655071 · BMC genomics · 2013 · 8 claims · 8 setups

  Has reproduction · 69

  Representative de novo transcriptome assemblies are generated with as few as ~20 million reads for single-tissue samples and ~30 million reads for whole animals at the mRNA-coverage level.

  mus chuniphyes hormiphora pleuromamma rna-seq homology

• Genomic rearrangements by LINE-1 insertion-mediated deletion in the human and chimpanzee lineages.

  PMID 16034026 · PMC1179734 · Nucleic acids research · 2005 · 8 claims · 6 setups

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  L1 insertions are directly responsible for genomic deletions (L1IMDs) confirmed in both human and chimpanzee genomes

  hg16 genomic individuals element computational pcr pcr-based

• Multiplexed discovery of sequence polymorphisms using base-specific cleavage and MALDI-TOF MS.

  PMID 15731331 · PMC549577 · Nucleic acids research · 2005 · 8 claims · 7 setups

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  Multiplexed base-specific cleavage/MALDI-TOF MS (Multiplexed Comparative Sequence Analysis) enables simultaneous discovery of sequence polymorphisms across multiple target regions

  ensembl genomic simulation pcr maldi-tof

• Computation of haplotypes on SNPs subsets: advantage of the "global method".

  PMID 17067372 · PMC1636337 · BMC genetics · 2006 · 6 claims · 4 setups

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  The global method for subhaplotyping always yields a lower error rate than the direct method across datasets and SNP subset sizes

  gh1 apoe coalescent-model-simulated griv computational genetic

• Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

  PMID 16981987 · PMC1592085 · BMC medical genetics · 2006 · 8 claims · 6 setups

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  Mutations were identified in 64 of 84 (76%) TSC probands, comprising 9 TSC1 and 55 TSC2 mutations

  genomic pcr-amplified tsc healthy dhplc direct pcr

• An investigation of polymorphisms in the 17q11.2-12 CC chemokine gene cluster for association with multiple sclerosis in Australians.

  PMID 16872505 · PMC1550395 · BMC medical genetics · 2006 · 7 claims · 7 setups

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  Marginally significant (uncorrected) transmission distortion was found for four SNPs after stratification by HLA-DRB1*1501 status, disease course, or gender.

  pooled australian independent trio pool snapshot snplex

• Analysis of nucleotide diversity of NAT2 coding region reveals homogeneity across Native American populations and high intra-population diversity.

  PMID 16847467 · PMC3099416 · The pharmacogenomics journal · 2007 · 8 claims · 6 setups

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  NAT2 variants are homogeneously distributed across native populations of the American continent

  chromosomes same inferred american pcr statistical haplotype

• Periodicity of SNP distribution around transcription start sites.

  PMID 16579865 · PMC1448210 · BMC genomics · 2006 · 8 claims · 6 setups

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  SNP density around TSS shows a 146-nucleotide periodicity

  genome human-chimpanzee tss promoter snp sequence cpg

• Haplotype analysis suggest common founders in carriers of the recurrent BRCA2 mutation, 3398delAAAAG, in French Canadian hereditary breast and/ovarian cancer families.

  PMID 16539696 · PMC1464093 · BMC medical genetics · 2006 · 7 claims · 6 setups

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  Carriers of the 3398delAAAAG BRCA2 mutation share one of two closely related haplotypes (7-3-9-3-[3/4]-7), consistent with a common ancestral origin.

  french index unaffected mutation-carrier mutation microsatellite haplotype

• Gene losses during human origins.

  PMID 16464126 · PMC1361800 · PLoS biology · 2006 · 7 claims · 7 setups

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  A comparative genomic screen identified 67 new human-specific nonprocessed pseudogenes, bringing the total (with 13 from prior literature) to 80 human-specific pseudogenes.

  pseudogene chimpanzee human-specific population comparative phylogenetic fisher's

• Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.

  PMID 16460646 · PMC3525152 · Human genomics · 2006 · 8 claims · 8 setups

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  GJB2 (connexin 26) mutations account for hearing loss in only 17 of 156 families (11%), a smaller fraction than reported in other populations.

  palestinian genomic probands lymphoblasts targeted sanger pcr

• A modified T-test feature selection method and its application on the HapMap genotype data.

  PMID 18267305 · PMC5054219 · Genomics, proteomics & bioinformatics · 2007 · 7 claims · 4 setups

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  A modified t-test ranking measure, extended to handle nominal SNP genotype data via vector transformation, can effectively rank SNPs by their discriminative capability for population classification.

  hapmap modified f-statistics informativeness

• Direct inference of SNP heterozygosity rates and resolution of LOH detection.

  PMID 18052545 · PMC2098867 · PLoS computational biology · 2007 · 6 claims · 7 setups

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  A large proportion of SNPs in dbSNP have high-variance HET rate estimates, limiting their reliability for LOH study design.

  dbsnp theoretical simulated hapmap snp probability sequential

• Sequence variation and linkage disequilibrium in the GABA transporter-1 gene (SLC6A1) in five populations: implications for pharmacogenetic research.

  PMID 17941974 · PMC2175509 · BMC genetics · 2007 · 8 claims · 7 setups

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  SLC6A1 shows low levels of LD and an absence of major LD blocks across all five populations studied

  african-american thai same study sanger snp genotyping

• Genetic and epigenetic changes in the common 1p36 deletion in neuroblastoma tumours.

  PMID 17940511 · PMC2360241 · British journal of cancer · 2007 · 8 claims · 4 setups

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  Treatment of neuroblastoma cell lines with the HDAC inhibitor trichostatin A (TSA) increased transcription of ERRFI1, PIK3CD, RBP7 and CASZ1, indicating possible epigenetic downregulation of these genes in NB

  lines tumours real-time bisulphite sequencing

• TEMP: a computational method for analyzing transposable element polymorphism in populations.

  PMID 24753423 · PMC4066757 · Nucleic acids research · 2014 · 8 claims · 8 setups

  Has reproduction · 61

  TEMP combines pair-end (discordant) read and split (soft-clipped) read information to identify both presence and absence of TE insertions in genomic DNA from heterogeneous/pooled samples.

  drosophila five four melanogaster simulated comparative whole-genome

• Fast-evolving noncoding sequences in the human genome.

  PMID 17578567 · PMC2394770 · Genome biology · 2007 · 8 claims · 6 setups

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  1,356 conserved noncoding sequences show human-specific accelerated substitution rates (ANC sequences) relative to chimpanzee

  chimpanzee genome hapmap comparative genomic segmental