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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Personalized genomic medicine with a patchwork, partially owned genome.
PMID 18449389 · PMC2347364 · The Yale journal of biology and medicine · 2007 · 8 claims · 6 setups
Structural variants (CNVs) cover as much as 20 percent of the human genome length and are present in phenotypically normal individuals without apparent negative consequences.
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The diploid genome sequence of an Asian individual.
PMID 18987735 · PMC2716080 · Nature · 2008 · 8 claims · 8 setups
First diploid genome sequence of an Asian (Han Chinese) individual generated using massively parallel Illumina sequencing
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The diploid genome sequence of an individual human.
PMID 17803354 · PMC1964779 · PLoS biology · 2007 · 7 claims · 6 setups
Generated an independently assembled diploid human genome sequence (HuRef) from both chromosome sets of a single individual using whole-genome shotgun Sanger sequencing
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Protein structure and function by the sea.
PMID 11983051 · PMC139342 · Genome biology · 2002 · 8 claims · 8 setups
High-throughput structural genomics (X-ray crystallography and NMR) can rapidly expand the number of solved protein structures far beyond what is currently in the Protein Data Bank.
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Analysis of genetic variability and whole genome linkage of whole-brain, subcortical, and ependymal hyperintense white matter volume.
PMID 19834011 · PMC2787844 · Stroke · 2009 · 8 claims · 5 setups
Whole-brain, subcortical, and ependymal HWM volumes are all highly heritable
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A genome-wide survey of segmental duplications that mediate common human genetic variation of chromosomal architecture.
PMID 15588494 · PMC3525102 · Human genomics · 2004 · 8 claims · 5 setups
PSD-mediated genomic architecture analogous to the 8p23/4p16 inversion regions is not unique to those loci but recurs genome-wide.
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Has reproduction · 98
Mutations in dnaA and a cryptic interaction site increase drug resistance in Mycobacterium tuberculosis.
PMID 33253310 · PMC7738170 · PLoS pathogens · 2020 · 7 claims · 8 setups
Non-synonymous mutations in dnaA are statistically associated with drug resistance (INH, RIF, SM) in clinical M. tuberculosis strains across two independent GWAS cohorts (China and Vietnam)
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Managing incidental findings in human subjects research: analysis and recommendations.
PMID 18547191 · PMC2575242 · The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics · 2008 · 8 claims · 5 setups
Little guidance currently exists on managing research IFs, and no consensus exists on the best approach across genetic/genomic and imaging research domains.
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Molecular phylogeny of the kelch-repeat superfamily reveals an expansion of BTB/kelch proteins in animals.
PMID 13678422 · PMC222960 · BMC bioinformatics · 2003 · 8 claims · 8 setups
The human genome encodes at least 71 kelch-repeat proteins
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Has reproduction · 88
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.
PMID 40963120 · PMC12445032 · Genome medicine · 2025 · 7 claims · 4 setups
Trio genome sequencing (tGS) achieves higher prospective diagnostic yield than standard-of-care (SoC) and singleton genome sequencing (sGS) even when performed by a newly trained team.
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Mice have a transcribed L-threonine aldolase/GLY1 gene, but the human GLY1 gene is a non-processed pseudogene.
PMID 15757516 · PMC555945 · BMC genomics · 2005 · 8 claims · 8 setups
Mouse has a transcribed, 7-exon L-threonine aldolase (GLY1) gene on chromosome 11 encoding a 400-residue protein homologous to bacterial threonine aldolase
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The jewels of our genome: the search for the genomic changes underlying the evolutionarily unique capacities of the human brain.
PMID 16733552 · PMC1464830 · PLoS genetics · 2006 · 8 claims · 7 setups
Human and chimp genomes differ by ~35 million single nucleotide substitutions, corresponding to ~1.06% divergence after removing polymorphic sites
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A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.
PMID 18985071 · PMC2721823 · European journal of human genetics : EJHG · 2009 · 7 claims · 8 setups
A novel homozygous frameshift mutation (1732delA) in exon 11 of MMP2 causes MONA in this Turkish family by deleting the terminal (third and fourth) hemopexin domains.
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Gene discovery in the hamster: a comparative genomics approach for gene annotation by sequencing of hamster testis cDNAs.
PMID 12783626 · PMC161800 · BMC genomics · 2003 · 8 claims · 5 setups
A comparative genomics approach using hamster testis cDNA sequencing can identify genes not previously annotated in the human, mouse, rat and Fugu genomes
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Divide and conquer: progress in the molecular stratification of cancer.
PMID 19718393 · PMC2730607 · Yonsei medical journal · 2009 · 8 claims · 8 setups
Cancers exhibit significant clinical, histopathologic, and molecular heterogeneity between individual patients
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MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions.
PMID 17480217 · PMC1868705 · BMC medical genetics · 2007 · 8 claims · 7 setups
The MRX87 disease locus maps to the Xp22-p21 interval, a known hot spot region for mental handicap