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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Has reproduction · 23
Accelerated Evolution of Tissue-Specific Genes Mediates Divergence Amidst Gene Flow in European Green Lizards.
PMID 33988711 · PMC8382678 · Genome biology and evolution · 2021 · 8 claims · 8 setups
The Adriatic lineage is a sister taxon to L. bilineata based on mitogenome and autosomal phylogenies
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Comparisons of substitution, insertion and deletion probes for resequencing and mutational analysis using oligonucleotide microarrays.
PMID 15722479 · PMC549431 · Nucleic acids research · 2005 · 7 claims · 4 setups
Two base deletion probes display the highest average hybridization specificity, followed by single base substitution, single base deletion, and single base insertion probes.
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The HuRef Browser: a web resource for individual human genomics.
PMID 19036787 · PMC2686481 · Nucleic acids research · 2009 · 7 claims · 6 setups
The HuRef Browser is a unified web application integrating assembly, annotation, and assembly-to-assembly comparison (ATAC) views for the diploid HuRef individual human genome.
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Cataloging coding sequence variations in human genome databases.
PMID 18974781 · PMC2570488 · PloS one · 2008 · 8 claims · 7 setups
A significant proportion of CVs overlap between HGMD and dbSNP (4.36% of HGMD CVs registered in dbSNP; 8.11% of dbSNP CVs registered in HGMD), warranting caution when interpreting phenotypic relevance of concurrent CVs.
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Variation in conserved non-coding sequences on chromosome 5q and susceptibility to asthma and atopy.
PMID 16336695 · PMC1325232 · Respiratory research · 2005 · 6 claims · 8 setups
There is overall little sequence variation in the conserved non-coding elements (CNEs) on 5q31, including none detected in CNE-B/CNS-1
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Comprehensive search for intra- and inter-specific sequence polymorphisms among coding envelope genes of retroviral origin found in the human genome: genes and pseudogenes.
PMID 16150157 · PMC1236922 · BMC genomics · 2005 · 8 claims · 5 setups
HERV-W (envW) and HERV-FRD (envFRD) envelope genes, both specifically expressed in placenta, show strong sequence conservation with only two nonsynonymous SNPs identified across 91 individuals
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Ancient adaptive evolution of the primate antiviral DNA-editing enzyme APOBEC3G.
PMID 15269786 · PMC479043 · PLoS biology · 2004 · 7 claims · 6 setups
APOBEC3G has been under strong, recurrent positive selection throughout primate evolution (~33 million years)
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Analysis of nucleotide diversity of NAT2 coding region reveals homogeneity across Native American populations and high intra-population diversity.
PMID 16847467 · PMC3099416 · The pharmacogenomics journal · 2007 · 8 claims · 6 setups
NAT2 variants are homogeneously distributed across native populations of the American continent
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Backseat drivers take the wheel.
PMID 18068625 · PMC2705833 · Cancer cell · 2007 · 8 claims · 8 setups
Systematic resequencing combined with functional validation can distinguish rare driver FLT3 mutations from passenger mutations in AML patients negative for known activating mutations
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Exhaustive prediction of disease susceptibility to coding base changes in the human genome.
PMID 18793467 · PMC2537574 · BMC bioinformatics · 2008 · 8 claims · 7 setups
Inter-species conservation is the strongest single predictor of disease-associated coding mutations among the factors tested.
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Targeted capture and massively parallel sequencing of 12 human exomes.
PMID 19684571 · PMC2844771 · Nature · 2009 · 8 claims · 8 setups
Targeted exome capture combined with massively parallel sequencing sensitively and specifically identifies rare and common variants across >300 Mb of coding sequence
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Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.
PMID 17764569 · PMC2072945 · BMC medical genetics · 2007 · 7 claims · 4 setups
A nonsense mutation in CDK5RAP2 exon 4, correctly designated 246T>A (Y82X), was identified in all four affected individuals of a Pakistani family linked to MCPH3
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Eurasian and African mitochondrial DNA influences in the Saudi Arabian population.
PMID 17331239 · PMC1810519 · BMC evolutionary biology · 2007 · 8 claims · 4 setups
The majority (85%) of Saudi Arab mtDNA lineages have a western Asia (Eurasian) provenance
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Using several pair-wise informant sequences for de novo prediction of alternatively spliced transcripts.
PMID 16925842 · PMC1810557 · Genome biology · 2006 · 8 claims · 4 setups
MARS, an extension of the Twinscan algorithm, uses multiple pairwise informant genomes to predict human alternatively spliced transcripts de novo without expressed sequence information.
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MitoVariome: a variome database of human mitochondrial DNA.
PMID 19958475 · PMC2788364 · BMC genomics · 2009 · 8 claims · 5 setups
MitoVariome is a web-based, integrated variome database for human mitochondrial DNA that unifies sequence variation, haplogroup, and disease annotation information not jointly available in prior databases (MITOMAP, mtDB, Mitome, MitoRes).
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Genome-wide signatures of convergent evolution in echolocating mammals.
PMID 24005325 · PMC3836225 · Nature · 2013 · 8 claims · 8 setups
Genome-wide convergent sequence evolution between echolocating lineages is not rare but widespread and continuously distributed, with signatures consistent with convergence in nearly 200 loci out of 2,326 examined.
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Genomic divergences among cattle, dog and human estimated from large-scale alignments of genomic sequences.
PMID 16759380 · PMC1525190 · BMC genomics · 2006 · 8 claims · 6 setups
Overall pairwise genomic divergences among cattle, dog and human are relatively constant (0.32–0.37 change/site)
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Increased constraints on MC4R during primate and human evolution.
PMID 19011902 · PMC9947067 · Human genetics · 2009 · 6 claims · 7 setups
There is a significant paucity of genetic diversity at MC4R in humans but not in chimpanzees.
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Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations.
PMID 18660851 · PMC2483297 · Molecular vision · 2008 · 8 claims · 6 setups
The four affected siblings are compound heterozygotes for two novel WFS1 mutations, one from each parent, causing Wolfram syndrome.
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Additional EFNB1 mutations in craniofrontonasal syndrome.
PMID 18627045 · PMC2774847 · American journal of medical genetics. Part A · 2008 · 8 claims · 4 setups
Loss-of-function mutations in EFNB1 (Xq13.1) are the cause of CFNS in the majority of patients