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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BLASTO: a tool for searching orthologous groups.
PMID 17483516 · PMC1933156 · Nucleic acids research · 2007 · 7 claims · 2 setups
BLASTO treats each orthologous group as a unit and outputs a ranked list of orthologous groups instead of single sequences
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Defective splicing, disease and therapy: searching for master checkpoints in exon definition.
PMID 16855287 · PMC1524908 · Nucleic acids research · 2006 · 8 claims · 8 setups
Splicing-affecting genomic variations can account for up to 50% of mutations leading to gene dysfunction in some genes
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Exonic remnants of whole-genome duplication reveal cis-regulatory function of coding exons.
PMID 19969543 · PMC2831330 · Nucleic acids research · 2010 · 8 claims · 8 setups
38 candidate cis-regulatory coding exons (RCEs) with predicted target genes were identified genome-wide
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SeqDoC: rapid SNP and mutation detection by direct comparison of DNA sequence chromatograms.
PMID 15927052 · PMC1156871 · BMC bioinformatics · 2005 · 8 claims · 6 setups
SeqDoC generates a subtracted difference trace between a reference and test chromatogram that highlights single base changes
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Heterogeneous genomic molecular clocks in primates.
PMID 17029560 · PMC1592237 · PLoS genetics · 2006 · 7 claims · 7 setups
Non-CpG site substitutions show clear generation-time dependency, consistent with a replication-error origin
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Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library.
PMID 20037582 · PMC2951730 · Nature biotechnology · 2010 · 8 claims · 7 setups
A standardized, non-redundant library of 1,889 breakpoint-resolved SVs was assembled from eight published surveys
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Novel mutations in the BRCA1 and BRCA2 genes in Iranian women with early-onset breast cancer.
PMID 12100744 · PMC116720 · Breast cancer research : BCR · 2002 · 8 claims · 4 setups
Germline BRCA1 and BRCA2 mutations are present in Iranian women with early-onset breast cancer, including four novel frameshift mutations
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Automatic discovery of cross-family sequence features associated with protein function.
PMID 16409628 · PMC1395344 · BMC bioinformatics · 2006 · 8 claims · 6 setups
A self-supervised data mining approach can find relationships between sequence features and functional annotations without preconceived functional categories.
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Speeding disease gene discovery by sequence based candidate prioritization.
PMID 15766383 · PMC1274252 · BMC bioinformatics · 2005 · 7 claims · 8 setups
Disease genes (OMIM) differ significantly from non-disease genes in sequence-based features including gene/cDNA/protein size, exon number, homolog conservation, secretion signal, 3' UTR length, CpG islands, and distance to nearest gene.
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Fast-evolving noncoding sequences in the human genome.
PMID 17578567 · PMC2394770 · Genome biology · 2007 · 8 claims · 6 setups
1,356 conserved noncoding sequences show human-specific accelerated substitution rates (ANC sequences) relative to chimpanzee
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EGenBio: a data management system for evolutionary genomics and biodiversity.
PMID 17118150 · PMC1683573 · BMC bioinformatics · 2006 · 7 claims · 7 setups
EGenBio is a web-based system for integrated management, filtering, curation, and visualization of large-scale genomic sequences, alignments, and phylogenetic trees for evolutionary genomics and biodiversity research.
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Applications for protein sequence-function evolution data: mRNA/protein expression analysis and coding SNP scoring tools.
PMID 16912992 · PMC1538848 · Nucleic acids research · 2006 · 7 claims · 8 setups
PANTHER HMMs built from family/subfamily multiple sequence alignments can classify novel protein sequences into functional groups based on statistically significant HMM match scores
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Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage.
PMID 32367296 · PMC7419486 · Journal of neurology · 2020 · 8 claims · 6 setups
Sequence variants in PCNT, RNF213 and THSD1 support a role as susceptibility factors for cerebrovascular disease (UIA/aSAH)
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Computational comparison of two mouse draft genomes and the human golden path.
PMID 12537546 · PMC151282 · Genome biology · 2003 · 8 claims · 7 setups
The Celera and public mouse genome assemblies differ in about 10% of the mouse genome, with complementary strengths (Celera higher base-pair accuracy and overall coverage; public assembly higher quality in some finished BAC regions and freely accessible)
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Empirical codon substitution matrix.
PMID 15927081 · PMC1173088 · BMC bioinformatics · 2005 · 8 claims · 5 setups
The authors present the first empirical codon substitution matrix built entirely from alignments of vertebrate coding DNA sequences.
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Polymorphism screening and haplotype analysis of the tryptophan hydroxylase gene (TPH1) and association with bipolar affective disorder in Taiwan.
PMID 15799788 · PMC1079843 · BMC medical genetics · 2005 · 8 claims · 7 setups
Systematic screening of TPH1 exons and promoter region in Taiwanese Han identified five sequence variants: A-1067G, G-347T, T3804A, C27224T, A27237G.
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Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.
PMID 15701167 · PMC551615 · BMC medical genetics · 2005 · 8 claims · 6 setups
21 rare sequence variations of the LDL receptor gene were identified in St.-Petersburg FH patients, 19 of which are probably pathogenic and 2 (P518P, T705I) neutral.
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Phylogenetic analysis of RhoGAP domain-containing proteins.
PMID 17127216 · PMC5054073 · Genomics, proteomics & bioinformatics · 2006 · 7 claims · 6 setups
RhoGAP domain-containing proteins, sharing the conserved arginine residue, form a monophyletic group with a common ancestor.
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On the association between chromosomal rearrangements and genic evolution in humans and chimpanzees.
PMID 17971225 · PMC2246304 · Genome biology · 2007 · 8 claims · 4 setups
Genes located in rearranged chromosomes show lower non-coding (KI), synonymous (KS), and non-synonymous (KA) divergence than genes in colinear chromosomes.
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Common genomic features of Campylobacter jejuni subsp. doylei strains distinguish them from C. jejuni subsp. jejuni.
PMID 17535437 · PMC1892558 · BMC microbiology · 2007 · 8 claims · 6 setups
Cjd strains are phylogenetically distinct from Cjj strains based on MLST and CGI analysis