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).

• SNPmasker: automatic masking of SNPs and repeats across eukaryotic genomes.

  PMID 16845091 · PMC1538889 · Nucleic acids research · 2006 · 8 claims · 4 setups

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  SNPmasker is a web service combining SNP masking and repeat masking, supporting both coordinate-defined and homology-search-defined input regions, a combination not offered by prior tools

  genome reference genomic runtime sequence comparative

• Widespread allele-specific topological domains in the human genome are not confined to imprinted gene clusters.

  PMID 36869353 · PMC9983196 · Genome biology · 2023 · 8 claims · 5 setups

  Has reproduction · 64

  HiCFlow, a new bioinformatic pipeline, performs de novo haplotype assembly, phasing, and visualization of allele-specific (parental) chromatin conformation directly from Hi-C data without requiring pre-phased haplotypes.

  1-7hb2 gm12878 imr-90 lines region hi-c genome-wide

• Genome-wide survey of allele-specific splicing in humans.

  PMID 18518984 · PMC2427040 · BMC genomics · 2008 · 8 claims · 5 setups

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  A genome-wide computational scan identified 30,977 SNPs located within predicted splicing regulatory sequences (donor sites, acceptor sites, branch points, and ESEs)

  genome cdna hapmap computational est exon

• A SNP-centric database for the investigation of the human genome.

  PMID 15046636 · PMC395999 · BMC bioinformatics · 2004 · 8 claims · 3 setups

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  SNPper is a web-based, integrated SNP database combining dbSNP, the Human Genome sequence (Goldenpath), LocusLink, GeneOntology, and SWISS-PROT data with querying, visualization, and export tools.

  genome genes user-supplied database snp-gene user-submitted

• TrEMOLO: accurate transposable element allele frequency estimation using long-read sequencing data combining assembly and mapping-based approaches.

  PMID 37013657 · PMC10069131 · Genome biology · 2023 · 6 claims · 6 setups

  Has reproduction · 89

  TrEMOLO combines an assembly-based INSIDER module and a mapping-based OUTSIDER module to detect TE insertions/deletions from long-read sequencing data and estimate their allele frequency

  melanogaster simulated long-read whole-genome genome

• Evaluation of core genome and whole genome multilocus sequence typing schemes for Campylobacter jejuni and Campylobacter coli outbreak detection in the USA.

  PMID 37133905 · PMC10272873 · Microbial genomics · 2023 · 8 claims · 8 setups

  Has reproduction · 92

  cgMLST, wgMLST and hqSNP WGS-based analysis methods clustered C. jejuni and C. coli isolates in concordance with epidemiological data.

  jejuni same subset isolate cgmlst hqsnp genome

• What can genome-wide association studies tell us about the genetics of common disease?

  PMID 18454206 · PMC2323402 · PLoS genetics · 2008 · 8 claims · 4 setups

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  Apparent patterns of common, low-effect disease-associated alleles largely reflect statistical power of studies rather than the true underlying distribution of disease variants

  case gwa simulated literature cochran-armitage computer

• Adequate use of allele frequencies in Hispanics--a problem elucidated in nephrotic syndrome.

  PMID 19876656 · PMC2899680 · Pediatric nephrology (Berlin, Germany) · 2010 · 7 claims · 3 setups

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  Self-identified Hispanic SRNS patients in the USA are genetically heterogeneous, being of either Caucasian or Mesoamerican (Native-American) descent

  genomic same healthy direct genome-wide

• Prime editing in mice reveals the essentiality of a single base in driving tissue-specific gene expression.

  PMID 33722289 · PMC7962346 · Genome biology · 2021 · 7 claims · 8 setups

  Has reproduction · 66

  A three-base-pair (HDR) or single-base (PE2) substitution in the Tspan2 CArG box causes cell-specific loss of Tspan2 mRNA in aorta and bladder, but not heart or brain

  tissues zygotes aorta spleen qrt-pcr allele-specific restriction

• The genetics of regulatory variation in the human genome.

  PMID 16004727 · PMC3525257 · Human genomics · 2005 · 8 claims · 7 setups

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  Naturally-occurring gene expression variation among individuals is common across species (yeast, Drosophila, mouse, fish, maize, primates, humans) and has a significant genetic component.

  ceph immortalised lymphoblastoid individuals reporter allelic microarray

• Patterns of evolutionary constraints on genes in humans.

  PMID 18840274 · PMC2587479 · BMC evolutionary biology · 2008 · 7 claims · 6 setups

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  BaseDiver, a novel framework integrating GERP score and derived allele frequency (DAF) at nonsynonymous coding SNPs, can classify GO functional categories by patterns of evolutionary constraint

  mammalian hapmap panther significant comparative population chi-square

• Genetic variation in an individual human exome.

  PMID 18704161 · PMC2493042 · PLoS genetics · 2008 · 8 claims · 7 setups

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  The ~12,500 nonsilent coding variants in the HuRef exome can be reduced ~8-fold to a set of ~1,600 variants most likely to affect protein function.

  huref genes subset whole-genome allele functional

• Effect of read-mapping biases on detecting allele-specific expression from RNA-sequencing data.

  PMID 19808877 · PMC2788925 · Bioinformatics (Oxford, England) · 2009 · 8 claims · 6 setups

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  Reads mapped to the reference genome show a significant bias toward the reference allele at heterozygous SNPs

  lymphoblastoid simulated hapmap genes rna-seq read-mapping eqtl

• Evolution of genomic sequence inhomogeneity at mid-range scales.

  PMID 19891785 · PMC2779198 · BMC genomics · 2009 · 7 claims · 3 setups

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  MRI regions have comparable levels of de novo mutations to control genomic sequences with average base composition.

  chimpanzee population genome whole-genome snp indel

• Identification of disease causing loci using an array-based genotyping approach on pooled DNA.

  PMID 16197552 · PMC1262713 · BMC genomics · 2005 · 8 claims · 5 setups

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  Pooling genomic DNA and genotyping on SNP microarrays accurately predicts allelic frequencies relative to individual genotyping

  genomic pools training siddt individual pooled k-correction

• Human SNPs resulting in premature stop codons and protein truncation.

  PMID 16595072 · PMC3500177 · Human genomics · 2006 · 8 claims · 6 setups

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  Genome-wide screening of dbSNP identified 28 validated X-SNPs from 28 genes with known minor allele frequencies.

  genome transcripts validated x-snp-encoded database blast exon-intron

• Evolutionary toggling of the MAPT 17q21.31 inversion region.

  PMID 19165922 · PMC2684794 · Nature genetics · 2008 · 8 claims · 6 setups

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  The H2 (inverted) orientation is the most likely ancestral great ape/human configuration at 17q21.31

  chimpanzee lymphoblastoid donor whole-genome reciprocal bac

• Variation resources at UC Santa Cruz.

  PMID 17151077 · PMC1781230 · Nucleic acids research · 2007 · 8 claims · 8 setups

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  The UCSC Genome Browser variation resources integrate polymorphism data from public collections (dbSNP, HapMap, Affymetrix, Perlegen, SeattleSNPs) into a common format with additional annotations and genomic context.

  chimpanzee affymetrix hapmap perlegen snp fixed linkage

• The detection of regions of our genome under selection has increasingly relied on the use of genome scans.

  PMID 16197732 · PMC3525123 · Human genomics · 2005 · 8 claims · 3 setups

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  Markers linked to a locus under local adaptation show larger variance in allele frequencies across populations (higher FST) than neutral markers

  populations common genome snp comparative

• Genomic approaches used to investigate an atypical outbreak of Salmonella Adjame.

  PMID 30648934 · PMC6412060 · Microbial genomics · 2019 · 8 claims · 7 setups

  Has reproduction · 100

  WGS typing of the S. Adjame outbreak showed marked sub-clustering and genetic heterogeneity atypical of a point-source Salmonella outbreak

  adjame first outbreak food genome snp-based core