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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Replication in mammalian cells recapitulates the locus-specific differences in somatic instability of genomic GAA triplet-repeats.
PMID 17142224 · PMC1669776 · Nucleic acids research · 2006 · 8 claims · 8 setups
Pure (GAA·TTC)44+ alleles at the FXN locus are unstable in human somatic cells in vivo, showing both expansions and contractions.
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Patterns of evolutionary constraints on genes in humans.
PMID 18840274 · PMC2587479 · BMC evolutionary biology · 2008 · 7 claims · 6 setups
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
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Whither genomics?
PMID 11104516 · PMC138820 · Genome biology · 2000 · 8 claims · 8 setups
Genomics is both a science (understanding genome structure/evolution) and a tool (learning gene function) that collects comprehensive data on all genes, in contrast to genetics which studies a few genes controlling a phenotype
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Rapid identification of PAX2/5/8 direct downstream targets in the otic vesicle by combinatorial use of bioinformatics tools.
PMID 18828907 · PMC2760872 · Genome biology · 2008 · 8 claims · 8 setups
A combinatorial bioinformatics pipeline (evolutionary double filtering comparative genomics, GXD/ZFIN database queries, MEDLINE text mining) can rapidly and specifically identify PAX2/5/8 direct downstream targets in the otic vesicle
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Ensembl 2007.
PMID 17148474 · PMC1761443 · Nucleic acids research · 2007 · 8 claims · 7 setups
Ensembl added 18 new chordate genomes this year, increasing total genomes available from 15 to 33, the largest yearly increase to date.
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Comparing whole genomes using DNA microarrays.
PMID 18347592 · PMC7097741 · Nature reviews. Genetics · 2008 · 8 claims · 6 setups
DNA microarrays offer a relatively inexpensive and efficient alternative to genome sequencing for comparing all known classes of genomic diversity between closely related genomes.
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The distribution of SNPs in human gene regulatory regions.
PMID 16209714 · PMC1260019 · BMC genomics · 2005 · 8 claims · 6 setups
SNPs occur with higher density closer to the transcriptional start site within gene promoter regions than in further upstream regions
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Evolution of motif variants and positional bias of the cyclic-AMP response element.
PMID 17288573 · PMC1796609 · BMC evolutionary biology · 2007 · 8 claims · 4 setups
Canonical CRE positional bias toward the -1 to -150 bp TSS region is present in vertebrates (human, mouse, rat, chicken, frog, zebrafish) but absent in sea squirt, fruit fly and worm.
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Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study.
PMID 17940071 · PMC2990861 · Human reproduction (Oxford, England) · 2007 · 8 claims · 7 setups
A novel heterozygous V355M missense mutation in SF1 was identified in one boy with micropenis and testicular regression syndrome (bilateral anorchia)
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Prediction and assessment of splicing alterations: implications for clinical testing.
PMID 18951448 · PMC2832470 · Human mutation · 2008 · 8 claims · 5 setups
Bioinformatic prediction alone is insufficient; in vitro analysis is needed to confirm or establish splicing aberrations for clinical variant classification
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The many uses of a genome sequence.
PMID 11423005 · PMC138940 · Genome biology · 2001 · 8 claims · 8 setups
Solved protein structures from structural genomics efforts can be used to model many other proteins by homology, aiding function prediction
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A genome-wide survey of Major Histocompatibility Complex (MHC) genes and their paralogues in zebrafish.
PMID 16271140 · PMC1309616 · BMC genomics · 2005 · 8 claims · 4 setups
149 putative MHC gene loci and their paralogues were identified in the zebrafish genome using sequence similarity searches against the Zv4 draft assembly.
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Integrative functional genomics.
PMID 15239826 · PMC463286 · Genome biology · 2004 · 8 claims · 8 setups
Ultra-conserved noncoding elements exist across human, mouse and rat genomes at very high sequence identity, often far from genes
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Glycomic analysis: an array of technologies.
PMID 19728746 · PMC3443568 · ACS chemical biology · 2009 · 8 claims · 8 setups
Glycosylation is the most prevalent protein post-translational modification, occurring on at least 50% of all proteins
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Characterization of 954 bovine full-CDS cDNA sequences.
PMID 16305752 · PMC1314900 · BMC genomics · 2005 · 7 claims · 8 setups
954 bovine full-length insert cDNA (bFLIC) clones representing 762 distinct loci were sequenced and characterized