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 · 50
Polymorphism identification and improved genome annotation of Brassica rapa through Deep RNA sequencing.
PMID 25122667 · PMC4232532 · G3 (Bethesda, Md.) · 2014 · 8 claims · 8 setups
330,995 SNPs were identified in transcribed regions between B. rapa genotypes R500 and IMB211, at an average frequency of one SNP per 200 bases.
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SNPdetector: a software tool for sensitive and accurate SNP detection.
PMID 16261194 · PMC1274293 · PLoS computational biology · 2005 · 7 claims · 7 setups
SNPdetector, which models human visual inspection of sequencing traces, achieves low false positive and false negative rates in automated SNP and mutation detection
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Comparative analysis reveals signatures of differentiation amid genomic polymorphism in Lake Malawi cichlids.
PMID 18616806 · PMC2530870 · Genome biology · 2008 · 8 claims · 8 setups
Lake Malawi cichlids are phenotypically and behaviorally diverse but appear genetically like a single subdivided population rather than distinct species
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SNP500Cancer: a public resource for sequence validation, assay development, and frequency analysis for genetic variation in candidate genes.
PMID 16381944 · PMC1347513 · Nucleic acids research · 2006 · 7 claims · 4 setups
SNP500Cancer provides sequence and genotype assay information for candidate cancer-related SNPs to support molecular epidemiology and complex disease mapping studies
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Functional nsSNPs from carcinogenesis-related genes expressed in breast tissue: potential breast cancer risk alleles and their distribution across human populations.
PMID 16595073 · PMC3500178 · Human genomics · 2006 · 7 claims · 5 setups
A bioinformatics strategy cross-referencing carcinogenesis-related gene lists with breast-tissue expression data can identify candidate breast cancer risk nsSNPs.
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The promise and reality of personal genomics.
PMID 19723346 · PMC2768970 · Genome biology · 2009 · 7 claims · 6 setups
Despite being the most complete and accurate individually sequenced human genome to date, AK1 sequencing still misses a substantial fraction of variants, showing sequencing technology remains far from complete/reliable.
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SNP selection for genes of iron metabolism in a study of genetic modifiers of hemochromatosis.
PMID 18366708 · PMC2289803 · BMC medical genetics · 2008 · 7 claims · 6 setups
Illumina validation/design scores above 0.6 are not strongly correlated with actual SNP genotyping performance (Gentrain score)
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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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QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data.
PMID 17341461 · PMC1874617 · Nucleic acids research · 2007 · 8 claims · 7 setups
QuantiSNP (OB-HMM) provides probabilistic quantification of copy number states and significantly improves accuracy of segmental aneuploidy identification and breakpoint mapping relative to existing tools (BeadStudio/Illumina)
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Global variation in copy number in the human genome.
PMID 17122850 · PMC2669898 · Nature · 2006 · 8 claims · 6 setups
A first-generation CNV map of the human genome was constructed from 270 HapMap individuals across four populations, identifying 1,447 CNV regions covering ~360 Mb (12%) of the genome.
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HapMap-based study of the 17q21 ERBB2 amplicon in susceptibility to breast cancer.
PMID 17117180 · PMC2360759 · British journal of cancer · 2006 · 6 claims · 5 setups
Common genetic variation (tSNPs and haplotypes) across the 400-kb 17q21 ERBB2 amplicon is not associated with breast cancer risk in British women.
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Evaluating the performance of commercial whole-genome marker sets for capturing common genetic variation.
PMID 17562002 · PMC1914356 · BMC genomics · 2007 · 8 claims · 5 setups
Commercial SNP panels provide levels of coverage in a non-reference Caucasian (Estonian) population similar to those seen in the HapMap CEPH (CEU) population sample
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SOP3v2: web-based selection of oligonucleotide primer trios for genotyping of human and mouse polymorphisms.
PMID 15980532 · PMC1160243 · Nucleic acids research · 2005 · 7 claims · 3 setups
SOP 3 v2 is a web-based application that outputs recommended forward/reverse PCR primers plus a sequencing primer optimized for sequence-based genotyping of human and mouse polymorphisms
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Has reproduction · 92
A network-guided protocol to discover susceptibility genes in genome-wide association studies using stability selection.
PMID 36609152 · PMC9850185 · STAR protocols · 2023 · 5 claims · 5 setups
The protocol identifies genes that are both statistically associated with a phenotype and functionally interconnected in a biological network
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The distribution of SNPs in human gene regulatory regions.
PMID 16209714 · PMC1260019 · BMC genomics · 2005 · 8 claims · 6 setups
SNPs occur with higher density closer to the transcriptional start site within gene promoter regions than in further upstream regions
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Relative impact of nucleotide and copy number variation on gene expression phenotypes.
PMID 17289997 · PMC2665772 · Science (New York, N.Y.) · 2007 · 8 claims · 5 setups
SNPs and CNVs capture largely non-overlapping signals of genetic variation affecting gene expression
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Genomic variation in myeloma: design, content, and initial application of the Bank On A Cure SNP Panel to detect associations with progression-free survival.
PMID 18778477 · PMC2553089 · BMC medicine · 2008 · 7 claims · 7 setups
A custom BOAC SNP panel of 3404 SNPs in 983 genes was developed using the Affymetrix GeneChip Targeted Genotyping Platform, focused on non-synonymous coding SNPs and regulatory-region SNPs in candidate genes.
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Identification of novel gene amplifications in breast cancer and coexistence of gene amplification with an activating mutation of PIK3CA.
PMID 19706770 · PMC2745517 · Cancer research · 2009 · 8 claims · 8 setups
Genome-wide DNA copy number analysis of 161 primary breast tumors identified six novel focally amplified genes: POLD3, IRAK4, IRX2, TBL1XR1, ASPH, and BRD4
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Genome Alteration Print (GAP): a tool to visualize and mine complex cancer genomic profiles obtained by SNP arrays.
PMID 19903341 · PMC2810663 · Genome biology · 2009 · 7 claims · 3 setups
GAP is a method for automatic detection of absolute segmental copy number and genotype status from SNP-array cancer genome profiles
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Variation resources at UC Santa Cruz.
PMID 17151077 · PMC1781230 · Nucleic acids research · 2007 · 8 claims · 8 setups
The UCSC Genome Browser variation resources integrate polymorphism data from public collections (dbSNP, HapMap, Affymetrix, Perlegen, SeattleSNPs) into a common format with additional annotations and genomic context.