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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Detecting natural selection by empirical comparison to random regions of the genome.
PMID 19783549 · PMC2778377 · Human molecular genetics · 2009 · 8 claims · 5 setups
Comparing candidate loci to empirically matched random genomic regions (ENCODE data) avoids the strong demographic/mutation assumptions required by theoretical neutral models and provides a robust test for selection
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Medical sequencing of candidate genes for nonsyndromic cleft lip and palate.
PMID 16327884 · PMC1298935 · PLoS genetics · 2005 · 8 claims · 8 setups
Point mutations in FOXE1, GLI2, JAG2, LHX8, MSX1, MSX2, SATB2, SKI, SPRY2, and TBX10 may be rare causes of isolated CL/P
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Predictive genomics of cardioembolic stroke.
PMID 19064790 · PMC2752697 · Stroke · 2009 · 8 claims · 4 setups
A Bayesian network multivariate model achieves 86% predictive accuracy (AUC) for cardioembolic stroke on fitted values
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Genome wide identification of recessive cancer genes by combinatorial mutation analysis.
PMID 18846217 · PMC2557123 · PloS one · 2008 · 7 claims · 4 setups
A combinatorial mutation analysis identified 154 candidate recessive cancer genes (pRecessiveCancer<1.5x10-7, FDR=0.39)
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Relation of candidate genes that encode for endothelial function to migraine and stroke: the Stroke Prevention in Young Women study.
PMID 19661472 · PMC2753702 · Stroke · 2009 · 8 claims · 6 setups
EDN SNP rs1800542 is associated with increased ischemic stroke risk in Caucasian women
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Has reproduction · 100
Whole-genome sequencing of cryopreserved resources from French Large White pigs at two distinct sampling times reveals strong signatures of convergent and divergent selection between the dam and sire lines.
PMID 36864379 · PMC9979506 · Genetics, selection, evolution : GSE · 2023 · 6 claims · 8 setups
French LWD and LWS lines have lost approximately 5% of the SNPs that segregated in the 1977 ancestral population.
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Cis sequence effects on gene expression.
PMID 17727713 · PMC2077339 · BMC genomics · 2007 · 6 claims · 4 setups
Approximately one in four genes (8 of 30, 26.7%) exhibit statistically significant cis sequence effects on gene expression in this study, consistent with a literature-wide weighted average of 26.2%
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Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2.
PMID 19649175 · PMC2718852 · Molecular vision · 2009 · 8 claims · 6 setups
A heterozygous missense mutation c.607G>A in exon 6 of CRYBB2, causing p.Val187Met, is the probable causative mutation for congenital nuclear cataract in this family
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The future is genome-wide.
PMID 16934105 · PMC1779592 · Genome biology · 2006 · 8 claims · 8 setups
Noncoding SNPs near NRG1 associated with schizophrenia likely act by influencing NRG1 expression level
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Development of an integrated genome informatics, data management and workflow infrastructure: a toolbox for the study of complex disease genetics.
PMID 15601538 · PMC3525068 · Human genomics · 2004 · 8 claims · 8 setups
An integrated system combining Ensembl, ACeDB, Gbrowse and custom relational databases provides a scalable genome informatics and workflow infrastructure for complex disease gene discovery.
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Genome-wide survey for biologically functional pseudogenes.
PMID 16680195 · PMC1456316 · PLoS computational biology · 2006 · 8 claims · 6 setups
A subset of ancient, cross-species-conserved pseudogenes (30 of 1,453 candidate quartets) show evidence consistent with retained biological function
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Current status and the future for the genetics of type I diabetes.
PMID 19956094 · PMC2805458 · Genes and immunity · 2009 · 8 claims · 7 setups
A T1DGC genome-wide association meta-analysis of >7500 cases and >9000 controls identified 42 distinct genomic locations associated with T1D at P<10^-6.
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Has reproduction · 74
Genetic architecture of natural variation of cardiac performance from flies to humans.
PMID 36383075 · PMC9668334 · eLife · 2022 · 8 claims · 7 setups
Natural genetic variation significantly influences cardiac performance traits (rhythmicity and contractility) across 167 DGRP lines
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In silico and in vitro comparative analysis to select, validate and test SNPs for human identification.
PMID 18076761 · PMC2222643 · BMC genomics · 2007 · 8 claims · 7 setups
A panel of 24 SNPs was selected and validated for human identification using 1,040 unrelated samples from three populations (Italian, Benin Gulf, Mongolian)
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Evola: Ortholog database of all human genes in H-InvDB with manual curation of phylogenetic trees.
PMID 17982176 · PMC2238928 · Nucleic acids research · 2008 · 6 claims · 7 setups
Evola combines genome synteny-based computational ortholog detection with manual curation of phylogenetic trees by experts to yield more reliable orthologs than automated pairwise methods
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Identification of multiple independent horizontal gene transfers into poxviruses using a comparative genomics approach.
PMID 18304319 · PMC2268676 · BMC evolutionary biology · 2008 · 8 claims · 4 setups
Comparative synteny conservation around a horizontally transferred gene (HTgene) can distinguish single versus multiple independent HGT events even without a robust phylogenetic tree.
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Genetical genomic determinants of alcohol consumption in rats and humans.
PMID 19874574 · PMC2777866 · BMC biology · 2009 · 8 claims · 6 setups
A genetical genomics approach combining brain gene expression, bQTL, and eQTL analysis in HXB/BXH RI rats identifies candidate genes for alcohol consumption
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Software for tag single nucleotide polymorphism selection.
PMID 16004730 · PMC3525260 · Human genomics · 2005 · 8 claims · 3 setups
Pairwise R2 methods tend to pick more tagging SNPs than strictly needed because they miss redundancy where two or more tag SNPs jointly predict an untagged SNP with no single direct surrogate.
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Has reproduction · 63
A worldwide map of swine short tandem repeats and their associations with evolutionary and environmental adaptations.
PMID 33892623 · PMC8063339 · Genetics, selection, evolution : GSE · 2021 · 8 claims · 8 setups
Identified 878,967 polymorphic STRs (pSTRs) from 394 deep-sequenced pig/Suidae genomes, the largest pSTR repository in pigs to date
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Has reproduction · 23
Analysis of whole-genome re-sequencing data of ducks reveals a diverse demographic history and extensive gene flow between Southeast/South Asian and Chinese populations.
PMID 33849442 · PMC8042899 · Genetics, selection, evolution : GSE · 2021 · 8 claims · 8 setups
Whole-genome resequencing reveals three geographically distinct genetic groups: local Chinese, wild, and local Southeast/South Asian duck populations