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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Identification and evolutionary analysis of novel exons and alternative splicing events using cross-species EST-to-genome comparisons in human, mouse and rat.
PMID 16536879 · PMC1479377 · BMC bioinformatics · 2006 · 8 claims · 6 setups
ENACE, a cross-species EST-to-genome comparison algorithm, can identify novel cassette-on exons and retained introns for EST-scanty species and distinguish conserved vs lineage-specific exons
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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
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MutDB: update on development of tools for the biochemical analysis of genetic variation.
PMID 17827212 · PMC2238958 · Nucleic acids research · 2008 · 7 claims · 5 setups
MutDB integrates dbSNP and Swiss-Prot genetic variation data with protein structural information, functional disruption prediction scores, and clinical phenotype links (OMIM, dbGAP)
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Synonymous substitution rates predict HIV disease progression as a result of underlying replication dynamics.
PMID 17305421 · PMC1797821 · PLoS computational biology · 2007 · 8 claims · 8 setups
The synonymous substitution rate (dS) of HIV env is strongly correlated with disease progression parameters (progression time, CD4+ decline rate, viral load increase rate), unlike the nonsynonymous rate (dN).
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Evolutionary history of the UCP gene family: gene duplication and selection.
PMID 18980678 · PMC2584656 · BMC evolutionary biology · 2008 · 8 claims · 8 setups
The UCP gene family arose through two ancestral gene duplications early in vertebrate evolution, producing the UCP1, UCP2 and UCP3 lineages.
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Cardiovascular genomics, personalized medicine, and the National Heart, Lung, and Blood Institute: part I: the beginning of an era.
PMID 20031542 · PMC3097376 · Circulation. Cardiovascular genetics · 2008 · 7 claims · 8 setups
Rare Mendelian mutations (e.g., in sarcomere genes, ion channels, FBN1, LMNA) cause specific rare cardiovascular conditions (hypertrophic/dilated cardiomyopathy, long-QT syndrome, thoracic aortic aneurysm, progeria) but explain little of common CVD risk.
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Design and analysis issues in genome-wide somatic mutation studies of cancer.
PMID 18692126 · PMC2820387 · Genomics · 2009 · 6 claims · 4 setups
Two-stage (discovery + validation) sequencing designs efficiently allocate resources and can produce highly informative candidate driver gene lists even with relatively small sample sizes.
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Novel MEK1 mutation identified by mutational analysis of epidermal growth factor receptor signaling pathway genes in lung adenocarcinoma.
PMID 18632602 · PMC2586155 · Cancer research · 2008 · 8 claims · 7 setups
A novel somatic MEK1 K57N mutation was identified in 2 of 207 primary lung adenocarcinomas
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Missense polymorphisms in the adenomatous polyposis coli gene and colorectal cancer risk.
PMID 18612690 · PMC2768068 · Diseases of the colon and rectum · 2008 · 7 claims · 4 setups
Germline missense APC alterations (S130G, E1317Q, D1822V, G2502S) identified in a CRC-multiple-polyp cohort do not confer significantly increased CRC risk when tested in a large population-based case-control series
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Relationships between emm and multilocus sequence types within a global collection of Streptococcus pyogenes.
PMID 18405369 · PMC2359762 · BMC microbiology · 2008 · 8 claims · 5 setups
emm type is often a poor marker for clonal genetic background across the global S. pyogenes collection
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Exome sequencing identifies the cause of a mendelian disorder.
PMID 19915526 · PMC2847889 · Nature genetics · 2010 · 8 claims · 7 setups
Exome sequencing of a small number of unrelated affected individuals, combined with filtering against public SNP databases and HapMap exomes, is sufficient to identify the causal gene for a monogenic disorder of unknown etiology.
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Prevalence and functional analysis of sequence variants in the ATR checkpoint mediator Claspin.
PMID 19737971 · PMC2994259 · Molecular cancer research : MCR · 2009 · 8 claims · 8 setups
CLSPN is a mediator protein essential for the ATR- and CHK1-dependent checkpoint response to replicative stress or single-stranded DNA
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Ethnic differences and functional analysis of MET mutations in lung cancer.
PMID 19723643 · PMC2767337 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2009 · 8 claims · 7 setups
MET mutations identified in lung tumors are predominantly germline rather than somatic
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Nucleotide sequence polymorphism at the apical membrane antigen-1 locus reveals population history of Plasmodium vivax in Thailand.
PMID 19643205 · PMC2790030 · Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases · 2009 · 8 claims · 6 setups
The domain II loop of PvAMA-1 is almost completely conserved at the amino acid level, consistent with strong purifying selection.
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Sequence variation in G-protein-coupled receptors: analysis of single nucleotide polymorphisms.
PMID 15784611 · PMC1069129 · Nucleic acids research · 2005 · 7 claims · 8 setups
Position-specific phylogenetic features describing evolutionary conservation at a site (e.g. SIFT score, normalized site entropy, residue frequency change) are the best individual discriminators of disease-causing versus neutral GPCR mutations.
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Genomic Correlates of Virulence Attenuation in the Deadly Amphibian Chytrid Fungus, Batrachochytrium dendrobatidis.
PMID 26333840 · PMC4632049 · G3 (Bethesda, Md.) · 2015 · 8 claims · 8 setups
Virulence attenuation in the longer-passaged Bd isolate (JEL427-P39) is associated with loss of chromosome copy number relative to the shorter-passaged, more virulent isolate (JEL427-P9)
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Has reproduction · 75
Genomic regions and candidate genes selected during the breeding of rice in Vietnam.
PMID 35899250 · PMC9309459 · Evolutionary applications · 2022 · 8 claims · 7 setups
XP-CLR and FST scans identify genomic regions with distorted allele frequency/differentiation patterns resulting from differential selective pressures between Vietnamese rice subpopulations
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Polymeric immunoglobulin receptor polymorphisms and risk of nasopharyngeal cancer.
PMID 12546713 · PMC149362 · BMC genetics · 2003 · 8 claims · 7 setups
PIGR is a nasopharyngeal cancer susceptibility gene
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Integrative annotation of 21,037 human genes validated by full-length cDNA clones.
PMID 15103394 · PMC393292 · PLoS biology · 2004 · 8 claims · 5 setups
41,118 full-length human cDNAs from six high-throughput sequencing projects were exhaustively integratively characterized
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A global definition of expression context is conserved between orthologs, but does not correlate with sequence conservation.
PMID 16423292 · PMC1382217 · BMC genomics · 2006 · 7 claims · 6 setups
Expression context is largely conserved between orthologs across four eukaryote species.