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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Reconstructing the genomic architecture of mammalian ancestors using multispecies comparative maps.
PMID 15601531 · PMC3525001 · Human genomics · 2003 · 8 claims · 4 setups
The MGR algorithm applied to human, mouse, cat and cattle comparative maps can impute an ancestral mammalian genome composed of conserved segments.
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ASPIC: a web resource for alternative splicing prediction and transcript isoforms characterization.
PMID 16845044 · PMC1538898 · Nucleic acids research · 2006 · 8 claims · 2 setups
The ASPIC algorithm, using an optimization procedure that minimizes splice site predictions and transcript isoforms from multiple EST-genome alignments, outperforms other similar AS-prediction tools in sensitivity and selectivity
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Rapid detection and curation of conserved DNA via enhanced-BLAT and EvoPrinterHD analysis.
PMID 18307801 · PMC2268679 · BMC genomics · 2008 · 8 claims · 8 setups
eBLAT detects up to 75% more conserved bases than original BLAT alignments, with the largest gains between evolutionarily distant orthologs
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Evolutionary algorithms for the selection of single nucleotide polymorphisms.
PMID 12875658 · PMC183839 · BMC bioinformatics · 2003 · 8 claims · 3 setups
Evolutionary algorithms are well suited to multiobjective optimization problems with large, intractable search spaces such as SNP selection, unlike exact methods (exhaustive enumeration) or single-objective search techniques (tabu search, simulated annealing).
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A genome-wide survey of segmental duplications that mediate common human genetic variation of chromosomal architecture.
PMID 15588494 · PMC3525102 · Human genomics · 2004 · 8 claims · 5 setups
PSD-mediated genomic architecture analogous to the 8p23/4p16 inversion regions is not unique to those loci but recurs genome-wide.
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SNiPer: improved SNP genotype calling for Affymetrix 10K GeneChip microarray data.
PMID 16262895 · PMC1280925 · BMC genomics · 2005 · 8 claims · 5 setups
Poorly performing SNPs (NoCall rate ≥25%) fail primarily due to inadequate training/localization of the MPAM statistical model call zone, not detection filter failure
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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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Transcriptome annotation using tandem SAGE tags.
PMID 17709346 · PMC2034470 · Nucleic acids research · 2007 · 8 claims · 7 setups
A novel algorithm pairs tandem SAGE tags anchored on two different restriction sites (CATG and GATC) to define tag-delimited genomic sequences (TDGS)
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Evaluating the performance of Affymetrix SNP Array 6.0 platform with 400 Japanese individuals.
PMID 18803882 · PMC2566316 · BMC genomics · 2008 · 8 claims · 5 setups
About 20% of the 909,622 SNPs on the SNP Array 6.0 are monomorphic in the Japanese population
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High fidelity of whole-genome amplified DNA on high-density single nucleotide polymorphism arrays.
PMID 18786630 · PMC2659594 · Genomics · 2008 · 8 claims · 7 setups
WGA product performs well on the Affymetrix 250K SNP array compared to genomic DNA, especially with the BRLMM calling algorithm.
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Does distance matter? Variations in alternative 3' splicing regulation.
PMID 17704130 · PMC2018619 · Nucleic acids research · 2007 · 8 claims · 7 setups
Alternative 3' splice sites can be distinguished from constitutive splice sites by a combination of sequence/conservation properties that vary depending on the distance between the splice sites.
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Shotgun haplotyping: a novel method for surveying allelic sequence variation.
PMID 16221968 · PMC1253838 · Nucleic acids research · 2005 · 8 claims · 7 setups
A novel shotgun haplotyping method generates haplotypic sequences from long PCR products by shotgun sequencing both alleles concurrently and using read-pair information to separate alleles during assembly
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High-throughput discovery of rare human nucleotide polymorphisms by Ecotilling.
PMID 16893952 · PMC1540726 · Nucleic acids research · 2006 · 7 claims · 6 setups
Ecotilling can be adapted to accurately discover and genotype human SNPs, with error rates low relative to resequencing
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A third approach to gene prediction suggests thousands of additional human transcribed regions.
PMID 16543943 · PMC1391917 · PLoS computational biology · 2006 · 8 claims · 7 setups
A third basic concept for gene prediction exists, based on detecting strand-specific 'transcription footprints' (mutational and selectional biases) rather than gene structure or sequence similarity.
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Mutation screening and haplotype analysis of the rhodopsin gene locus in Japanese patients with retinitis pigmentosa.
PMID 17653048 · PMC2776539 · Molecular vision · 2007 · 8 claims · 4 setups
No RP patient among 68 Japanese subjects carried a RHO mutation causing an amino acid substitution
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Whole genome distribution and ethnic differentiation of copy number variation in Caucasian and Asian populations.
PMID 19956714 · PMC2776354 · PloS one · 2009 · 8 claims · 5 setups
3,019 CNVs (2,381 autosomal, 638 X chromosome) were identified across 985 Caucasian and 692 Asian individuals using the Affymetrix 500K array
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Increasing the number of SNP loci does not necessarily improve prediction power at least in the comparison of MTHFR SNP and haplotypes.
PMID 19075497 · PMC4771609 · Journal of epidemiology · 2008 · 7 claims · 6 setups
Increasing the number of typed SNP loci does not necessarily improve prediction power, at least for the MTHFR gene
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miRBase: tools for microRNA genomics.
PMID 17991681 · PMC2238936 · Nucleic acids research · 2008 · 8 claims · 6 setups
miRBase release 10.0 contains 5071 miRNA hairpin loci from 58 species, expressing 5922 distinct mature miRNA sequences, a growth of over 2000 sequences in 2 years
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Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource.
PMID 16507150 · PMC1413975 · Breast cancer research : BCR · 2006 · 6 claims · 7 setups
kConFab is a collaborative resource providing epidemiological, clinical, and biospecimen data from high-risk familial breast/ovarian cancer families, available to researchers worldwide for ethically approved, peer-reviewed projects.
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Assignment of Streptococcus agalactiae isolates to clonal complexes using a small set of single nucleotide polymorphisms.
PMID 18710585 · PMC2533671 · BMC microbiology · 2008 · 7 claims · 6 setups
A four-SNP set (glnA36, glnA429, glcK180, adhP111) identified via the Not-N algorithm plus empirical testing divides GBS into 10 groups concordant with eBURST-defined population structure.