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 ENCODE Project at UC Santa Cruz.
PMID 17166863 · PMC1781110 · Nucleic acids research · 2007 · 8 claims · 4 setups
The UCSC ENCODE portal serves as the primary repository and access point for sequence-based ENCODE pilot phase data
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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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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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Analysis of sequence conservation at nucleotide resolution.
PMID 18166073 · PMC2230682 · PLoS computational biology · 2007 · 8 claims · 4 setups
SCONE (Sequence CONservation Evaluation) is a novel method that estimates evolutionary rate and a neutrality p-value for individual nucleotide positions in a multiple sequence alignment.
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Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome.
PMID 17567995 · PMC1891336 · Genome research · 2007 · 7 claims · 3 setups
Four different alignment methods show large-scale consistency but substantial differences in small-scale rearrangements, sensitivity, and specificity.
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EGASP: the human ENCODE Genome Annotation Assessment Project.
PMID 16925836 · PMC1810551 · Genome biology · 2006 · 8 claims · 6 setups
Best-performing computational gene prediction methods correctly predict at least one transcript for close to 70% of annotated genes in the ENCODE regions.
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Sequence polymorphisms cause many false cis eQTLs.
PMID 17637838 · PMC1906859 · PloS one · 2007 · 8 claims · 7 setups
Many reported local/cis eQTLs are false positives caused by probe-region sequence polymorphisms affecting hybridization rather than true cis-regulatory expression differences.
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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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Genomic views of distant-acting enhancers.
PMID 19741700 · PMC2923221 · Nature · 2009 · 8 claims · 8 setups
Meta-analysis of ~1200 top GWAS SNPs found that in 40% of cases (472/1170) no known exons overlap the linked SNP or its haplotype block, implying noncoding variation causally contributes to many traits.
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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
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Vertebrate gene finding from multiple-species alignments using a two-level strategy.
PMID 16925840 · PMC1810555 · Genome biology · 2006 · 8 claims · 5 setups
DOGFISH cleanly separates a multi-species alignment classifier (RVM cascade) from an HMM-based structure predictor, avoiding tight coupling of alignment complexity with HMM formalism
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Exogean: a framework for annotating protein-coding genes in eukaryotic genomic DNA.
PMID 16925841 · PMC1810556 · Genome biology · 2006 · 8 claims · 5 setups
Exogean is a framework using directed acyclic coloured multigraphs (DACMs) to represent biological objects (mRNA, ESTs, protein alignments, exons) and iteratively combine them into complex protein-coding transcript models.
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GENCODE: producing a reference annotation for ENCODE.
PMID 16925838 · PMC1810553 · Genome biology · 2006 · 8 claims · 8 setups
GENCODE annotation combines initial manual annotation by HAVANA, experimental validation, and refinement based on results to identify protein-coding genes in ENCODE regions
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AUGUSTUS at EGASP: using EST, protein and genomic alignments for improved gene prediction in the human genome.
PMID 16925833 · PMC1810548 · Genome biology · 2006 · 8 claims · 5 setups
AUGUSTUS predicted significantly more genes correctly than any other ab initio program in EGASP
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AceView: a comprehensive cDNA-supported gene and transcripts annotation.
PMID 16925834 · PMC1810549 · Genome biology · 2006 · 8 claims · 4 setups
At the mRNA level, AceView transcripts are the closest match to Gencode transcripts among all evaluated methods, including alternative splice variants
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Has reproduction · 69
A comparison across non-model animals suggests an optimal sequencing depth for de novo transcriptome assembly.
PMID 23496952 · PMC3655071 · BMC genomics · 2013 · 8 claims · 8 setups
Representative de novo transcriptome assemblies are generated with as few as ~20 million reads for single-tissue samples and ~30 million reads for whole animals at the mRNA-coverage level.
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Has reproduction · 98
maxATAC: Genome-scale transcription-factor binding prediction from ATAC-seq with deep neural networks.
PMID 36719906 · PMC9917285 · PLoS computational biology · 2023 · 8 claims · 6 setups
maxATAC is a suite of deep neural network models enabling state-of-the-art, genome-scale TFBS prediction from ATAC-seq, with models for 127 human transcription factors
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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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CONTRAST: a discriminative, phylogeny-free approach to multiple informant de novo gene prediction.
PMID 18096039 · PMC2246271 · Genome biology · 2007 · 8 claims · 5 setups
CONTRAST predicts exact coding region structures for 65% more human genes than the previous state-of-the-art de novo predictor (N-SCAN)
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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.