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).
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GeneMark: web software for gene finding in prokaryotes, eukaryotes and viruses.
PMID 15980510 · PMC1160247 · Nucleic acids research · 2005 · 8 claims · 2 setups
The GeneMark website provides web interfaces to the GeneMark family of ab initio gene-finding programs for prokaryotic, eukaryotic and viral genomic sequences
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Has reproduction · 96
A bioinformatic pipeline for simulating viral integration data.
PMID 35496474 · PMC9046613 · Data in brief · 2022 · 7 claims · 3 setups
A snakemake-based pipeline was developed to simulate integration of a viral or vector genome into a host genome, including sub-genomic fragment integration, structural variation, and host-site deletions.
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The Neandertal genome and ancient DNA authenticity.
PMID 19661919 · PMC2725275 · The EMBO journal · 2009 · 8 claims · 6 setups
Only direct assays of DNA sequence positions where Neandertals differ from all contemporary humans can reliably estimate human contamination.
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Complex landscapes of somatic rearrangement in human breast cancer genomes.
PMID 20033038 · PMC3398135 · Nature · 2009 · 8 claims · 6 setups
There are more somatic rearrangements in some breast cancers than previously appreciated by cytogenetic methods.
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An integrative genomic and epigenomic approach for the study of transcriptional regulation.
PMID 18365023 · PMC2266992 · PloS one · 2008 · 8 claims · 7 setups
Integrative analysis combining gene expression, DNA methylation, and H3K9 acetylation data reveals hundreds of additional differentially expressed genes missed by gene expression arrays alone
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Sequence determinants of human microsatellite variability.
PMID 20015383 · PMC2806349 · BMC genomics · 2009 · 6 claims · 4 setups
Mean and maximum number of repeats across individuals are positively correlated with heterozygosity
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A high throughput method for genome-wide analysis of retroviral integration.
PMID 17028098 · PMC1636494 · Nucleic acids research · 2006 · 8 claims · 8 setups
VITA uses MmeI to cleave DNA at a fixed distance from its recognition site, generating 21-22 bp genomic tags that serve as signatures of lentiviral integration sites.
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Restriction landmark genomic scanning (RLGS) spot identification by second generation virtual RLGS in multiple genomes with multiple enzyme combinations.
PMID 18053125 · PMC2235865 · BMC genomics · 2007 · 7 claims · 4 setups
A second-generation virtual RLGS (vRLGS) system predicts DNA fragment migration using sequence characteristics plus fragment length, and is applicable to any sequenced genome and enzyme combination
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Automated recognition of retroviral sequences in genomic data--RetroTector.
PMID 17636050 · PMC1976444 · Nucleic acids research · 2007 · 8 claims · 8 setups
RetroTector uses 'fragment threading' (detection of chains of conserved retroviral motifs satisfying distance constraints) combined with LTR detection and protein reconstruction to identify ERVs in genomic sequences
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Patterns and rates of intron divergence between humans and chimpanzees.
PMID 17309804 · PMC1852421 · Genome biology · 2007 · 8 claims · 6 setups
Intron divergence (Ki) is strongly positively correlated with intron length
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Frameshift mutations in coding repeats of protein tyrosine phosphatase genes in colorectal tumors with microsatellite instability.
PMID 19000305 · PMC2586028 · BMC cancer · 2008 · 7 claims · 6 setups
16 PTP candidate genes containing coding mononucleotide repeats (cMNR) of at least 7 units were identified via bioinformatic analysis and screened in MSI-H cell lines, cancers, and adenomas
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Enrichment of sequencing targets from the human genome by solution hybridization.
PMID 19835619 · PMC2784331 · Genome biology · 2009 · 8 claims · 5 setups
Solution hybridization with 120-mer capture probes efficiently enriches targeted genomic sequences for next-generation sequencing
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SelTarbase, a database of human mononucleotide-microsatellite mutations and their potential impact to tumorigenesis and immunology.
PMID 19820113 · PMC2808963 · Nucleic acids research · 2010 · 7 claims · 6 setups
SelTarbase is a curated relational database of published mononucleotide-repeat mutation data from MSI-H human colorectal, gastric, endometrial tumors and colon cancer cell lines.
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A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family.
PMID 19753316 · PMC2742643 · Molecular vision · 2009 · 8 claims · 6 setups
A novel nonsense mutation (c.614C>A; p.S205X) in exon 1 of GRK1 causes disease in family RP19
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Bases and spaces: resources on the web for accessing the draft human genome.
PMID 11178254 · PMC138875 · Genome biology · 2000 · 8 claims · 8 setups
By combining currently available genomic databases and mapping resources (GenBank/Entrez, UniGene, RH maps, BAC fingerprint maps, Ensembl, NIX), it is possible to devise strategies that fully exploit the fragmentary draft human genome sequence.
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Back to basics.
PMID 12186643 · PMC139395 · Genome biology · 2002 · 8 claims · 8 setups
Human PDS (Pendrin) gene mutations damage ear structures and are linked to hereditary deafness and goiter
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Has reproduction
Human Retrotransposons and Effective Computational Detection Methods for Next-Generation Sequencing Data.
PMID 36295018 · PMC9605557 · Life (Basel, Switzerland) · 2022 · 8 claims · 7 setups
Transposable elements make up nearly 45% of the human genome, vastly exceeding the ~1.5% that is protein-coding.
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Automatic annotation of eukaryotic genes, pseudogenes and promoters.
PMID 16925832 · PMC1810547 · Genome biology · 2006 · 8 claims · 6 setups
Fgenesh++ gene prediction pipeline identifies 91% of coding nucleotides with 90% specificity
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Genomes of Helicobacter pylori from native Peruvians suggest admixture of ancestral and modern lineages and reveal a western type cag-pathogenicity island.
PMID 16872520 · PMC1553449 · BMC genomics · 2006 · 8 claims · 7 setups
Native Peruvian H. pylori strains comprise two lineages: predominant hp-Europe and ~20% hsp-Amerind (Amerindian ancestry, closer to Alaska strains)
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Bias of selection on human copy-number variants.
PMID 16482228 · PMC1366494 · PLoS genetics · 2006 · 8 claims · 8 setups
Human CNVs are significantly overrepresented near telomeres and centromeres and enriched in simple tandem repeats relative to the genome as a whole