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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Proceedings of the First International Conference on Phylogenomics. March 15-19, 2006. Quebec, Canada.
PMID 17288567 · PMC1796603 · BMC evolutionary biology · 2007 · 8 claims · 8 setups
Gene tree parsimony applied to EST data with widespread gene duplication can infer an organismal phylogeny in excellent agreement with the expected angiosperm phylogeny.
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Insights into the coupling of duplication events and macroevolution from an age profile of animal transmembrane gene families.
PMID 16895434 · PMC1534073 · PLoS computational biology · 2006 · 8 claims · 7 setups
The density of transmembrane gene duplicates positively correlates with the estimated maximum number of cell types of common ancestors
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Risk of pancreatic cancer in families with Lynch syndrome.
PMID 19861671 · PMC4091624 · JAMA · 2009 · 7 claims · 3 setups
Families with germline MMR gene mutations (Lynch Syndrome) have an 8.6-fold increased risk of pancreatic cancer compared to the general U.S. population.
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Web-based resources for comparative genomics.
PMID 16197736 · PMC3525128 · Human genomics · 2005 · 8 claims · 8 setups
Comparative genomics is an indispensable tool for identifying functional genome elements and exploring evolutionary genome dynamics
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Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.
PMID 17704778 · PMC2872770 · Nature genetics · 2007 · 8 claims · 6 setups
Mutations in UPF3B cause syndromic (Lujan-Fryns syndrome, FG syndrome) and nonsyndromic X-linked mental retardation
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Insights into vertebrate evolution from the chicken genome sequence.
PMID 15693954 · PMC551526 · Genome biology · 2005 · 8 claims · 6 setups
Chicken has expanded gene families involved in egg production (e.g., avidin) and feather/scale/claw formation (avian-specific keratins) not present or lost in mammals
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Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval.
PMID 18510646 · PMC2689154 · Annals of human genetics · 2008 · 7 claims · 5 setups
Direct sequencing of 43 candidate genes in 7 Spanish arRP families identified 244 sequence variants (76 novel), none pathogenic, excluding these genes as disease-causing.
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Association between the ACCN1 gene and multiple sclerosis in Central East Sardinia.
PMID 17534430 · PMC1868958 · PloS one · 2007 · 8 claims · 6 setups
Microsatellite D17S798 in the 17q11.2 region shows significant association with MS
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Genetics of autistic disorders: review and clinical implications.
PMID 19941018 · PMC2839494 · European child & adolescent psychiatry · 2010 · 8 claims · 8 setups
AD are predominantly genetically determined disorders with heritability of around 90%.
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FGF: a web tool for Fishing Gene Family in a whole genome database.
PMID 17584790 · PMC1933194 · Nucleic acids research · 2007 · 6 claims · 3 setups
FGF efficiently searches and identifies gene families in whole-genome databases and outputs visual phylogenetic trees annotated with gene structure, chromosome position, duplication fate, and selective pressure (Ka/Ks)
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Significance of the parkin and PINK1 gene in Jordanian families with incidences of young-onset and juvenile parkinsonism.
PMID 19087301 · PMC2635385 · BMC neurology · 2008 · 8 claims · 8 setups
A parkin exon 4 deletion segregates with disease in a three-generation family (Family F), homozygous in both affected individuals
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GPCR genes are preferentially retained after whole genome duplication.
PMID 18382678 · PMC2270905 · PloS one · 2008 · 8 claims · 6 setups
WGD-derived nGPCR duplicates in Tetraodon nigroviridis are retained at a significantly higher rate (23.5%) than the genome-wide average (15%)
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MEROPS: the peptidase database.
PMID 19892822 · PMC2808883 · Nucleic acids research · 2010 · 8 claims · 5 setups
MEROPS is a manually curated hierarchical classification of peptidases and protein inhibitors organized into protein species, families, and clans based on sequence and structural homology.
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Molecular genetic diagnosis of von Hippel-Lindau disease: analysis of five Japanese families.
PMID 8641976 · PMC5921130 · Japanese journal of cancer research : Gann · 1996 · 5 claims · 3 setups
Four of five Japanese VHL disease families showed germ line VHL gene mutations, comprising 2 missense mutations, 1 deletion, and 1 splice-site mutation
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T1DBase, a community web-based resource for type 1 diabetes research.
PMID 15608258 · PMC540049 · Nucleic acids research · 2005 · 8 claims · 6 setups
T1DBase is an integrated, open-access web resource that unifies genetic, genomic, and biological data to support type 1 diabetes (T1D) research
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More breast cancer genes?
PMID 11305950 · PMC138680 · Breast cancer research : BCR · 2001 · 8 claims · 7 setups
A new high-risk breast cancer gene termed BRCAX may exist on chromosome 13q, identified via CGH and linkage analysis in Nordic families
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Mutation analysis of the ATR gene in breast and ovarian cancer families.
PMID 15987455 · PMC1175065 · Breast cancer research : BCR · 2005 · 8 claims · 5 setups
ATR mediates the DNA damage response by phosphorylating tumor suppressors such as p53, BRCA1 and CHK1, making it a plausible candidate breast/ovarian cancer susceptibility gene
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TreeFam: a curated database of phylogenetic trees of animal gene families.
PMID 16381935 · PMC1347480 · Nucleic acids research · 2006 · 7 claims · 6 setups
Tree-based inference of orthologs and paralogs is more robust than BLAST-based methods because evolutionary rates (and thus pairwise BLAST scores) vary across gene family members
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Isolated populations and complex disease gene identification.
PMID 18771588 · PMC2575505 · Genome biology · 2008 · 8 claims · 5 setups
Isolated/founder populations are useful for identifying genes underlying common complex diseases, not just rare monogenic diseases.
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Systems genetics of alcoholism.
PMID 23584748 · PMC3860445 · Alcohol research & health : the journal of the National Institute on Alcohol Abuse and Alcoholism · 2008 · 8 claims · 8 setups
Alcoholism is a multifactorial disease driven by interacting genetic, social, and environmental factors, with genetics accounting for 50-60% of risk.