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).

• BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.

  PMID 18234728 · PMC2564862 · Journal of medical genetics · 2008 · 8 claims · 7 setups

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  BHD germline mutation detection rate was 88% (51/58 families) using direct DNA sequencing

  peripheral blood-derived folliculin chest direct subcloning sequence

• NeMeSys: a biological resource for narrowing the gap between sequence and function in the human pathogen Neisseria meningitidis.

  PMID 19818133 · PMC2784325 · Genome biology · 2009 · 8 claims · 5 setups

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  Determined and manually annotated the complete genome sequence of N. meningitidis clinical isolate strain 8013

  meningitidis archived strain neisseria whole-genome transposon targeted

• Dynamic Proteomics: a database for dynamics and localizations of endogenous fluorescently-tagged proteins in living human cells.

  PMID 19820112 · PMC2808965 · Nucleic acids research · 2010 · 8 claims · 6 setups

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  The Dynamic Proteomics database compiles fluorescence dynamics and localization data for endogenously YFP/Venus-tagged human proteins from the LARC library studied by Cohen et al.

  h1299 cdna user-submitted time-lapse cd-tagging race

• Contribution of retrotransposition to developmental disorders.

  PMID 31604926 · PMC6789007 · Nature communications · 2019 · 7 claims · 8 setups

  Has reproduction · 79

  De novo retrotransposition events, though rare, can be diagnostic causes of severe developmental disorders

  ddd overlapping ppg unaffected whole-exome bespoke whole-genome

• A crowdsourced set of curated structural variants for the human genome.

  PMID 32559231 · PMC7329145 · PLoS computational biology · 2020 · 8 claims · 8 setups

  Has reproduction · 71

  1235 manually curated SVs were produced that can be used to evaluate SV callers or train machine learning models

  hg002 crowdsourced short-read mate-pair

• 4-Methylcytosine DNA modification is critical for global epigenetic regulation and virulence in the human pathogen Leptospira interrogans.

  PMID 33301041 · PMC7708080 · Nucleic acids research · 2020 · 7 claims · 8 setups

  Has reproduction · 78

  Inactivation of the orphan 4mC methyltransferase (LomA) causes complete abrogation of CTAG motif methylation genome-wide

  interrogans mdck-1 syrian smrt rna-seq rt-qpcr

• Human Retrotransposons and Effective Computational Detection Methods for Next-Generation Sequencing Data.

  PMID 36295018 · PMC9605557 · Life (Basel, Switzerland) · 2022 · 8 claims · 7 setups

  Has reproduction

  Retrotransposons mobilize via a copy-and-paste mechanism involving transcription of an RNA intermediate and reinsertion as a cDNA copy, unlike DNA transposons which cut-and-paste.

  drosophila normal genomic genome synthetic whole-genome computational

• 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

• Discovery and characterization of Alu repeat sequences via precise local read assembly.

  PMID 26503250 · PMC4666360 · Nucleic acids research · 2015 · 7 claims · 8 setups

  Has reproduction · 69

  Combining Alu-supporting read detection (RetroSeq) with local de novo assembly (CAP3) reconstructs the full sequence of non-reference Alu insertions from Illumina paired-end WGS reads

  hgdp insertion-supporting candidate assembled genome discordant novo

• Genomic structure and alterations of homeobox gene CDX2 in colorectal carcinomas.

  PMID 10027310 · PMC2362430 · British journal of cancer · 1999 · 8 claims · 6 setups

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  CDX2 expression is decreased in colorectal carcinomas in prior studies

  genomic sporadic hnpcc carcinoma standard pcr-sscp cloning

• Prevalence of BRCA1 in a hospital-based population of Dutch breast cancer patients.

  PMID 10952774 · PMC2363536 · British journal of cancer · 2000 · 8 claims · 5 setups

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  The estimated prevalence of BRCA1 mutations in the general Dutch breast cancer population is 2.1%

  peripheral reamplified patients dsdi founder-deletion-specific direct

• Identification of a novel spliced variant of the SYT gene expressed in normal tissues and in synovial sarcoma.

  PMID 11308259 · PMC2363857 · British journal of cancer · 2001 · 8 claims · 8 setups

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  Two forms of SYT mRNA, N-SYT and a novel form I-SYT, are co-expressed in normal human tissues and in synovial sarcomas

  synovial ss-derived normal liver rt-pcr cloning densitometric

• Molecular archeology of L1 insertions in the human genome.

  PMID 12372140 · PMC134481 · Genome biology · 2002 · 8 claims · 4 setups

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  TSDfinder, a new algorithm, refines RepeatMasker-identified L1 boundaries by locating poly(A) tails, TSDs, and inversion breakpoints

  genome tsd 50-nt full-length repeat sequence repeat-content

• Emerging genomic and proteomic evidence on relationships among the animal, plant and fungal kingdoms.

  PMID 15629046 · PMC5172449 · Genomics, proteomics & bioinformatics · 2004 · 8 claims · 7 setups

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  Sequence-based molecular phylogenies widely support a sister relationship between animals and fungi, grouped as the Opisthokonta

  nine animals completed fungal combined sequence biochemical

• Benchmarking tools for the alignment of functional noncoding DNA.

  PMID 14736341 · PMC344529 · BMC bioinformatics · 2004 · 8 claims · 4 setups

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  Global alignment tools (Avid, ClustalW, Lagan, Needle, DiAlign-G) typically have higher sensitivity over entire noncoding sequences and within constrained blocks than local tools

  simulated melanogaster sapiens sequence pairwise genome

• StatsDB: platform-agnostic storage and understanding of next generation sequencing run metrics.

  PMID 24627795 · PMC3938176 · F1000Research · 2013 · 8 claims · 6 setups

  Has reproduction · 43

  StatsDB is an open-source software package for storage and analysis of next generation sequencing run metrics, backed by an SQL (MySQL) database with Perl and Java APIs.

  fastq mysql perl java fastqc relational programmatic

• Defective splicing, disease and therapy: searching for master checkpoints in exon definition.

  PMID 16855287 · PMC1524908 · Nucleic acids research · 2006 · 8 claims · 8 setups

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  Splicing-affecting genomic variations can account for up to 50% of mutations leading to gene dysfunction in some genes

  random trans-acting tpo fibronectin minigene selex cdna

• Modeling chromosomes in mouse to explore the function of genes, genomic disorders, and chromosomal organization.

  PMID 16839184 · PMC1500809 · PLoS genetics · 2006 · 8 claims · 8 setups

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  Cre/loxP recombination in ES cells can generate megabase-scale deletions, duplications, and inversions depending on loxP orientation, cis/trans configuration, and cell cycle stage

  hybrid recombinant mice homologous cre clone

• Heterotachy in mammalian promoter evolution.

  PMID 16683025 · PMC1449885 · PLoS genetics · 2006 · 8 claims · 5 setups

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  The rate of promoter evolution relative to control sequences is not consistent between or within mammalian lineages over time (heterotachy)

  promoter ancient chimpanzee comparative ancient micro-indel

• A third approach to gene prediction suggests thousands of additional human transcribed regions.

  PMID 16543943 · PMC1391917 · PLoS computational biology · 2006 · 8 claims · 7 setups

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  A third basic concept for gene prediction exists, based on detecting strand-specific 'transcription footprints' (mutational and selectional biases) rather than gene structure or sequence similarity.

  genome 4.4-mb known nucleotide repeat polyadenylation