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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Given the complexity of the human genome, can 'personalised medicine' or 'individualised drug therapy' ever be achieved?
PMID 19706359 · PMC3525196 · Human genomics · 2009 · 7 claims · 3 setups
The human genome is far too complex, given current understanding, for personalised medicine or individualised drug therapy to be realised in the near term
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An evaluation of the performance of tag SNPs derived from HapMap in a Caucasian population.
PMID 16532062 · PMC1391920 · PLoS genetics · 2006 · 8 claims · 5 setups
CEU HapMap-derived tSNPs capture most of the genetic variation observed in the Estonian (EGP) population sample
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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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A model-based approach to selection of tag SNPs.
PMID 16776821 · PMC1525207 · BMC bioinformatics · 2006 · 7 claims · 5 setups
The Li and Stephens hidden Markov model outperforms other tested models (simple Markov, two-state HMM, HMM-4D, greedy GR-1/GR-2) in description code-length, tag set information content, and prediction of tagged SNPs.
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Detecting natural selection by empirical comparison to random regions of the genome.
PMID 19783549 · PMC2778377 · Human molecular genetics · 2009 · 8 claims · 5 setups
Comparing candidate loci to empirically matched random genomic regions (ENCODE data) avoids the strong demographic/mutation assumptions required by theoretical neutral models and provides a robust test for selection
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The UCSC Genome Browser Database: update 2006.
PMID 16381938 · PMC1347506 · Nucleic acids research · 2006 · 8 claims · 8 setups
The UCSC Genome Browser Database (GBD) provides integrated sequence and annotation data, with web tools (Genome Browser, Table Browser, Proteome Browser, Gene Sorter, BLAT, In Silico PCR) for visualizing and querying genomes of about a dozen vertebrate species and several model organisms.
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Strong signature of natural selection within an FHIT intron implicated in prostate cancer risk.
PMID 18953408 · PMC2568805 · PloS one · 2008 · 8 claims · 8 setups
Re-sequencing and genotyping across a 28.5 kb region delineates the prostate cancer risk association within FHIT intron 5 to a 15 kb LD block in European-Americans.
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Personalized genomic medicine with a patchwork, partially owned genome.
PMID 18449389 · PMC2347364 · The Yale journal of biology and medicine · 2007 · 8 claims · 6 setups
Structural variants (CNVs) cover as much as 20 percent of the human genome length and are present in phenotypically normal individuals without apparent negative consequences.
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Power analysis for genome-wide association studies.
PMID 17725844 · PMC2042984 · BMC genetics · 2007 · 8 claims · 6 setups
Developed a method to compute genome-wide association study power using tag SNPs and representative population genotype data (HapMap), equivalent to the cumulative r2-adjusted power of Jorgenson and Witte.
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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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Accurate whole human genome sequencing using reversible terminator chemistry.
PMID 18987734 · PMC2581791 · Nature · 2008 · 8 claims · 7 setups
A novel sequencing platform using fluorescent reversible terminator nucleotides on clonally amplified single-molecule DNA clusters generates several billion bases of accurate sequence per experiment at low cost.
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Integrative functional genomics.
PMID 15239826 · PMC463286 · Genome biology · 2004 · 8 claims · 8 setups
Ultra-conserved noncoding elements exist across human, mouse and rat genomes at very high sequence identity, often far from genes