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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The minisequencing method: a simple strategy for genetic screening of MEN 2 families.
PMID 12042015 · PMC116428 · BMC genetics · 2002 · 6 claims · 4 setups
Minisequencing reproduces the same mutation information obtained by direct sequencing of PCR products at RET codons 634 and 918 in all tested MEN 2 family members.
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A novel procedure for genotyping of single nucleotide polymorphisms in trisomy with genomic DNA and the invader assay.
PMID 18940863 · PMC2602776 · Nucleic acids research · 2008 · 7 claims · 4 setups
A novel Invader assay-based procedure can accurately determine SNP genotypes in trisomic genomic DNA samples in a simple, cost-effective manner
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PCR-free method detects high frequency of genomic instability in prostate cancer.
PMID 19797393 · PMC2794161 · Nucleic acids research · 2009 · 7 claims · 6 setups
A novel PCR-free random cloning/sequencing method can detect genomic variants that PCR-based approaches miss in heterogeneous tumor genomes.
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Using ESTs to improve the accuracy of de novo gene prediction.
PMID 16817966 · PMC1534067 · BMC bioinformatics · 2006 · 8 claims · 8 setups
TWINSCAN_EST combines EST alignments with TWINSCAN via a trainable 'ESTseq' representation and improves exact gene structure prediction accuracy on the whole C. elegans genome
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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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Evaluation of multiple displacement amplification in a 5 cM STR genome-wide scan.
PMID 16055919 · PMC1182175 · Nucleic acids research · 2005 · 7 claims · 5 setups
MDA genotyping call rates and accuracy are only marginally lower than for genomic DNA
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The brain-derived neurotrophic factor rs6265 (Val66Met) polymorphism and depression in Mexican-Americans.
PMID 17632285 · PMC2686836 · Neuroreport · 2007 · 7 claims · 4 setups
BDNF SNP rs6265 (Val66Met) is significantly associated with diagnosis of major depression in Mexican-Americans
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Single-track sequencing for genotyping of multiple SNPs in the N-acetyltransferase 1 (NAT1) gene.
PMID 15563733 · PMC544357 · BMC biotechnology · 2004 · 8 claims · 6 setups
A single-track sequencing (SSR) strategy on one PCR product can simultaneously address 24 genetic variants in the NAT1 gene using paired terminator tracks (A/G for coding region, A/T for 3' flanking region)
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TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation.
PMID 15345028 · PMC517934 · BMC medical genetics · 2004 · 8 claims · 4 setups
No disease-associated mutations were found in TM4SF10 in 16 XLMR patients from 14 families with linkage to the TM4SF10 locus.
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A method for accurate detection of genomic microdeletions using real-time quantitative PCR.
PMID 16351727 · PMC1327677 · BMC genomics · 2005 · 8 claims · 5 setups
A qPCR method using unique-sequence primers can reproducibly detect chromosomal microdeletions and microduplications
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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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Computer identification of snoRNA genes using a Mammalian Orthologous Intron Database.
PMID 16093549 · PMC1184218 · Nucleic acids research · 2005 · 8 claims · 5 setups
Created the Mammalian Orthologous Intron Database (MOID) containing orthologous introns of human, mouse and rat identified via conserved reading-frame position
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Multiplex amplification enabled by selective circularization of large sets of genomic DNA fragments.
PMID 15860768 · PMC1087789 · Nucleic acids research · 2005 · 8 claims · 4 setups
Selector oligonucleotides can circularize many distinct genomic restriction fragments in one reaction, enabling parallel amplification with a single universal primer pair instead of multiple target-specific primer pairs
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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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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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Analysis of copy number variation using quantitative interspecies competitive PCR.
PMID 18697816 · PMC2553599 · Nucleic acids research · 2008 · 7 claims · 6 setups
qicPCR uses the entire genome of a single chimpanzee as a competitor, requiring only one reference sample for all assays and enabling large-scale multiplexing
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DNA methylation analysis by digital bisulfite genomic sequencing and digital MethyLight.
PMID 18628296 · PMC2504308 · Nucleic acids research · 2008 · 8 claims · 6 setups
Digital PCR compartmentalizes individual bisulfite-converted DNA template molecules into separate wells, enabling single-molecule DNA methylation analysis
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Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia.
PMID 18237401 · PMC2276215 · Lipids in health and disease · 2008 · 8 claims · 4 setups
Two distinct heterozygous frameshift mutations in CAV1 (I134fsdelA-X137 and -88delC) were identified in patients with atypical partial lipodystrophy and severe hypertriglyceridemia
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Rapid detection of SMARCB1 sequence variation using high resolution melting.
PMID 20003390 · PMC2801682 · BMC cancer · 2009 · 8 claims · 6 setups
HRM screening of SMARCB1 amplicons has a zero false negative rate compared to direct sequencing
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Microdroplet-based PCR enrichment for large-scale targeted sequencing.
PMID 19881494 · PMC2779736 · Nature biotechnology · 2009 · 7 claims · 5 setups
Microdroplet PCR enables massively parallel singleplex amplification (up to ~1.5 million reactions, up to 4,000 targets) for targeted sequencing enrichment