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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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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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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Expression profiling of drug response--from genes to pathways.
PMID 17117610 · PMC3181826 · Dialogues in clinical neuroscience · 2006 · 8 claims · 8 setups
Understanding individual response to a drug (efficacy/tolerability) is the major bottleneck in current drug development and clinical trials.
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Hominoid chromosomal rearrangements on 17q map to complex regions of segmental duplication.
PMID 18257913 · PMC2374708 · Genome biology · 2008 · 8 claims · 7 setups
The macaque marker order on chromosome 17 represents the ancestral hominoid/mammalian organization
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Spinocerebellar ataxia type 23: a genetic update.
PMID 19089525 · PMC2694919 · Cerebellum (London, England) · 2009 · 8 claims · 6 setups
The SCA23 disease locus maps to chromosome 20p13-12.3, spanning ~6 Mb and containing 97 known/predicted genes.
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Statistical Viewer: a tool to upload and integrate linkage and association data as plots displayed within the Ensembl genome browser.
PMID 15826305 · PMC1087836 · BMC bioinformatics · 2005 · 8 claims · 3 setups
Statistical Viewer is a plug-in package for Ensembl that displays disease study-specific linkage and/or association data as 2D plots within Ensembl's Contig View and Cyto View pages.
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Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation.
PMID 18614783 · PMC2518320 · The New England journal of medicine · 2008 · 7 claims · 5 setups
A heterozygous frameshift mutation in NPPA (encoding atrial natriuretic peptide, ANP) causes familial atrial fibrillation
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Efficacy assessment of SNP sets for genome-wide disease association studies.
PMID 17726055 · PMC2034459 · Nucleic acids research · 2007 · 6 claims · 4 setups
τ, derived from Shannon entropy and swept radius ɛ, approximates the relative sample size efficiency of a marker set for mapping a causal variant at a given map position compared to a maximally polymorphic SNP
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Ordered subsets linkage analysis of antisocial behavior in substance use disorder among participants in the Collaborative Study on the Genetics of Alcoholism.
PMID 18496835 · PMC4248599 · American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2008 · 8 claims · 5 setups
Prior to OSA, modest evidence for linkage to SUD was found on chromosomes 8 and 17.
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The EPHA2 gene is associated with cataracts linked to chromosome 1p.
PMID 19005574 · PMC2582197 · Molecular vision · 2008 · 5 claims · 5 setups
A heterozygous c.2842G>T (p.G948W) mutation in EPHA2 exon 17 causes autosomal dominant posterior polar cataracts in family Mu
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Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation.
PMID 18692127 · PMC3341170 · Genomics · 2008 · 8 claims · 7 setups
Autozygosity mapping identified a highly significant homozygous region on chromosome 13q14.11-q14.3 (Z/LOD=10.41)
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Human genomic variation.
PMID 11178257 · PMC138878 · Genome biology · 2000 · 8 claims · 7 setups
Lewontin's 1972 analysis of 17 blood-group/protein loci found 85% of human genetic variation lies within individuals of a nation/tribe, 8% between populations within races, and only 6% between races
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Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence.
PMID 12702206 · PMC154576 · Genome biology · 2003 · 8 claims · 6 setups
Segmental duplications comprise 3.53% (107.4/3,043.1 Mb) of the June 2002 human genome assembly
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Has reproduction · 90
Comparative Genomics Provides Insight into the Function of Broad-Host Range Sponge Symbionts.
PMID 34519538 · PMC8546597 · mBio · 2021 · 8 claims · 8 setups
Eleven new genomes were added to the Tethybacterales order and a novel family (Polydorabacteraceae) was identified
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Has reproduction · 67
binny: an automated binning algorithm to recover high-quality genomes from complex metagenomic datasets.
PMID 36239393 · PMC9677464 · Briefings in bioinformatics · 2022 · 8 claims · 8 setups
binny outperforms or is highly competitive with commonly used and state-of-the-art binning methods (MetaBAT2, MaxBin2, CONCOCT, VAMB, SemiBin, MetaDecoder)
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A cell biological perspective on genome research.
PMID 8522596 · PMC2120688 · The Journal of cell biology · 1995 · 7 claims · 7 setups
Genome sequencing represents a sixth stage in the historical progression of structural biology (comparative anatomy through crystallography), and will be similarly valuable once related to function.
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Reconstructing the genomic architecture of mammalian ancestors using multispecies comparative maps.
PMID 15601531 · PMC3525001 · Human genomics · 2003 · 8 claims · 4 setups
The MGR algorithm applied to human, mouse, cat and cattle comparative maps can impute an ancestral mammalian genome composed of conserved segments.
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Using comparative genomics to reorder the human genome sequence into a virtual sheep genome.
PMID 17663790 · PMC2323240 · Genome biology · 2007 · 8 claims · 6 setups
A sheep BAC library (CHORI-243) with ~13.5-fold genome coverage was constructed and end-sequenced.
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Genetics of bipolar disorder.
PMID 18689285 · PMC3181866 · Dialogues in clinical neuroscience · 2008 · 8 claims · 6 setups
BP-I has a strong genetic component supported by segregation, adoption, and twin studies across populations
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Has reproduction · 83
Accurate prediction of metagenome-assembled genome completeness by MAGISTA, a random forest model built on alignment-free intra-bin statistics.
PMID 35248155 · PMC8898458 · Environmental microbiome · 2022 · 7 claims · 7 setups
MAGISTA, a random forest model built on alignment-free intra-bin distance-distribution statistics, can estimate MAG completeness and purity without relying on reference marker genes.