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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Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies.
PMID 17953491 · PMC2039766 · PLoS genetics · 2007 · 8 claims · 5 setups
CNVs are not easily tagged by SNPs and often fall in genomic regions poorly covered by whole-genome SNP arrays or not genotyped by HapMap, so current GWASs have largely missed their contribution to complex disorders.
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Has reproduction · 69
High-resolution transcriptome and genome-wide dynamics of RNA polymerase and NusA in Mycobacterium tuberculosis.
PMID 23222129 · PMC3553938 · Nucleic acids research · 2013 · 8 claims · 7 setups
NusA interacts with RNAP ubiquitously throughout the M. tuberculosis chromosome and its ChIP-seq profile mirrors RNAP distribution in both exponential and stationary phase, despite NusA not binding DNA directly.
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DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
PMID 16625196 · PMC2610434 · Nature · 2006 · 8 claims · 7 setups
A finished sequence of human chromosome 17 (78,839,971 bases, ~2.8% of the euchromatic genome) was generated.
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The UCSC Proteome Browser.
PMID 15608236 · PMC540054 · Nucleic acids research · 2005 · 8 claims · 5 setups
The UCSC Proteome Browser is tightly integrated with the UCSC Genome Browser, giving users simultaneous access to genome and proteome data.
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Has reproduction · 42
KAGE: fast alignment-free graph-based genotyping of SNPs and short indels.
PMID 36195962 · PMC9531401 · Genome biology · 2022 · 7 claims · 7 setups
KAGE combines population-based kmer count modeling with single-variant prior adjustment into an alignment-free genotyper that matches the accuracy of the best existing alignment-free genotypers while being an order of magnitude faster.
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Simple models of genomic variation in human SNP density.
PMID 17553150 · PMC1919371 · BMC genomics · 2007 · 6 claims · 4 setups
Hierarchical Poisson model B, which allows both the mutation-rate proxy (Beta-distributed Λ) and the ARG-size proxy (Gamma-distributed T) to vary, fits the observed SNP density distribution significantly better than models with only one or neither varying.
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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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Genome-wide identification of human functional DNA using a neutral indel model.
PMID 16410828 · PMC1326222 · PLoS computational biology · 2006 · 8 claims · 8 setups
A neutral indel model predicting a geometric distribution of intergap segment (IGS) lengths fits human-mouse ancestral repeat (AR) alignment data excellently
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Long-range regulation is a major driving force in maintaining genome integrity.
PMID 19682388 · PMC2741452 · BMC evolutionary biology · 2009 · 7 claims · 5 setups
Long-range transcriptional regulation is a major driving force in maintaining genome integrity by constraining where chromosomal breakpoints can become fixed.
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In silico meets in vivo.
PMID 18304380 · PMC2374716 · Genome biology · 2008 · 8 claims · 8 setups
About 10% of positions in multiple sequence alignments of the human genome with other vertebrate genomes are likely incorrect.
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A space-efficient and accurate method for mapping and aligning cDNA sequences onto genomic sequence.
PMID 18344523 · PMC2377433 · Nucleic acids research · 2008 · 7 claims · 6 setups
Spaln maps and aligns large cDNA sequence sets onto whole mammalian genomes using substantially less memory than comparable existing tools
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Tandem repeats modify the structure of human genes hosted in segmental duplications.
PMID 19954527 · PMC2812944 · Genome biology · 2009 · 8 claims · 6 setups
Around 7% of primate-specific genes located within segmental duplications contain variable internal tandem repeats (ITRs).
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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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The ASAP II database: analysis and comparative genomics of alternative splicing in 15 animal species.
PMID 17108355 · PMC1669709 · Nucleic acids research · 2007 · 8 claims · 4 setups
ASAP II expands human alternative splicing data ~3-fold over the previous ASAP database, to ~89,078 distinct alternative splicing relationships in 11,717 genes
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Genome-wide analysis of human disease alleles reveals that their locations are correlated in paralogous proteins.
PMID 18989397 · PMC2565504 · PLoS computational biology · 2008 · 7 claims · 5 setups
The locations of sequence variants are correlated between paralogous human proteins more than expected by chance.
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Has reproduction · 98
Massively parallel genomic perturbations with multi-target CRISPR interrogates Cas9 activity and DNA repair at endogenous sites.
PMID 36064968 · PMC9481459 · Nature cell biology · 2022 · 8 claims · 6 setups
Multi-target gRNAs (mgRNAs) can direct Cas9 to over a hundred well-mapped endogenous genomic sites simultaneously, enabling massively parallel, high-throughput interrogation of Cas9 activity via short-read sequencing
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Evidence for a preferential targeting of 3'-UTRs by cis-encoded natural antisense transcripts.
PMID 16204454 · PMC1243798 · Nucleic acids research · 2005 · 8 claims · 4 setups
Cis-encoded natural antisense RNAs show striking preferential complementarity to 3′-UTRs of their target genes in human and mouse genomes
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Diversity of tRNA genes in eukaryotes.
PMID 17088292 · PMC1693877 · Nucleic acids research · 2006 · 8 claims · 6 setups
The number of tRNA genes having the same anticodon but different sequences elsewhere (isodecoder genes) varies significantly (10–246) across 11 eukaryotes despite isoacceptor numbers being similar (41–55)
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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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Ensembl 2008.
PMID 18000006 · PMC2238821 · Nucleic acids research · 2008 · 8 claims · 6 setups
The Ensembl regulatory build integrates multiple genome-wide functional genomics datasets to automatically annotate regulatory regions and assign putative functions across the genome.