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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Sequencing the regulatory genome.
PMID 18598374 · PMC2481419 · Genome biology · 2008 · 8 claims · 8 setups
Nuclear-lamina-associated domains (LADs) define chromatin regions with distinct transcriptional characteristics (fewer, lower-expressed genes, low RNA Pol II occupancy, H3K27me3-enriched borders)
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Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.
PMID 18203199 · PMC2578871 · American journal of medical genetics. Part A · 2008 · 6 claims · 8 setups
Two novel homozygous missense mutations in BBS5 (p.Gly72Ser and p.Thr183Ala) were identified in non-Caucasian BBS patients (Somali and Sri Lankan)
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Locus-specific and activity-independent gene repositioning during early tumorigenesis.
PMID 18195100 · PMC2213600 · The Journal of cell biology · 2008 · 7 claims · 6 setups
The genome undergoes global spatial reorganization during both normal and tumorigenic mammary epithelial differentiation, as shown by reduced nucleolar number.
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The Bifidobacterium dentium Bd1 genome sequence reflects its genetic adaptation to the human oral cavity.
PMID 20041198 · PMC2788695 · PLoS genetics · 2009 · 8 claims · 8 setups
The B. dentium Bd1 genome was sequenced to completion, revealing a single circular 2,636,368 bp chromosome with 2,143 predicted ORFs
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Fusion of short telomeres in human cells is characterized by extensive deletion and microhomology, and can result in complex rearrangements.
PMID 20026586 · PMC2847243 · Nucleic acids research · 2010 · 8 claims · 5 setups
Telomere fusion in human cells is characterized by extensive sub-telomeric deletion of at least one telomere, extending up to 5.6-6.1 kb
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Current status and the future for the genetics of type I diabetes.
PMID 19956094 · PMC2805458 · Genes and immunity · 2009 · 8 claims · 7 setups
A T1DGC genome-wide association meta-analysis of >7500 cases and >9000 controls identified 42 distinct genomic locations associated with T1D at P<10^-6.
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Inverse symmetry in complete genomes and whole-genome inverse duplication.
PMID 19898631 · PMC2771390 · PloS one · 2009 · 8 claims · 5 setups
Reverse and complement symmetries are essentially absent in genomic sequences at all scales.
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Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects.
PMID 19858129 · PMC3030964 · Journal of medical genetics · 2010 · 7 claims · 5 setups
Two unrelated PHP-I families each include at least one patient with a Gsα coding mutation (PHP-Ia) and another with GNAS imprinting defects (PHP-Ib)
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Effect of read-mapping biases on detecting allele-specific expression from RNA-sequencing data.
PMID 19808877 · PMC2788925 · Bioinformatics (Oxford, England) · 2009 · 8 claims · 6 setups
Reads mapped to the reference genome show a significant bias toward the reference allele at heterozygous SNPs
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Identifying cis-regulatory sequences by word profile similarity.
PMID 19730735 · PMC2731932 · PloS one · 2009 · 8 claims · 8 setups
WPH-finder identifies putative co-regulated CRMs by scanning the genome for sequences with word profiles similar to a known CRM, without explicitly defining binding sites
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The promise and reality of personal genomics.
PMID 19723346 · PMC2768970 · Genome biology · 2009 · 7 claims · 6 setups
Despite being the most complete and accurate individually sequenced human genome to date, AK1 sequencing still misses a substantial fraction of variants, showing sequencing technology remains far from complete/reliable.
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The Neandertal genome and ancient DNA authenticity.
PMID 19661919 · PMC2725275 · The EMBO journal · 2009 · 8 claims · 6 setups
Only direct assays of DNA sequence positions where Neandertals differ from all contemporary humans can reliably estimate human contamination.
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Has reproduction · 29
MOSAIK: a hash-based algorithm for accurate next-generation sequencing short-read mapping.
PMID 24599324 · PMC3944147 · PloS one · 2014 · 8 claims · 8 setups
MOSAIK is the only aligner that consistently aligns reads from all major sequencing platforms (Illumina, AB SOLiD, Roche 454, Ion Torrent, Pacific Biosciences SMRT) using the same algorithmic approach.
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Has reproduction · 50
Quality control method for RNA-seq using single nucleotide polymorphism allele frequency.
PMID 25243705 · PMC4231238 · Genes to cells : devoted to molecular & cellular mechanisms · 2014 · 8 claims · 8 setups
SNP allele frequency distributions from RNA-seq reads can detect contaminating cells whose genomic background differs from the target cells; the mode of the distribution reflects the cellular composition while its variance reflects PCR bias.
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FEDRANN: effective long-read overlap detection based on dimensionality reduction and approximate nearest neighbors.
PMID 42102720 · PMC13201080 · GigaScience · 2026 · 8 claims · 6 setups
A pipeline combining IDF transformation, sparse random projection (SRP), and NNDescent (the FEDRANN strategy) enables accurate overlap detection across diverse long-read datasets
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LINE-1 Locus Transcription Nucleates Oncogenic Chromatin Architecture.
PMID 41489510 · PMC13040219 · Cancer discovery · 2026 · 8 claims · 8 setups
LINE-1 RNAs are primarily chromatin-associated nascent transcripts rather than cytosolic mRNAs
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The genome sequence of the Chalk Yellow-face Bee, Hylaeus dilatatus (Kirby, 1802) (Hymenoptera: Colletidae).
PMID 41657665 · PMC12881847 · Wellcome open research · 2026 · 8 claims · 8 setups
A two-haplotype genome assembly of Hylaeus dilatatus was produced, with total lengths of 307.38 Mb (haplotype 1) and 314.32 Mb (haplotype 2)
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WeavePop: a bioinformatics workflow to explore and analyze genomic variants of eukaryotic populations.
PMID 41685638 · PMC13042275 · G3 (Bethesda, Md.) · 2026 · 8 claims · 7 setups
WeavePop is a novel Snakemake-based, reproducible, scalable workflow that performs reference-based read mapping, assembly, annotation, small variant calling/effect prediction, and CNV detection for eukaryotic haploid organisms
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Diversity and evolution of a phase-variable multi-locus antigen in Neisseria gonorrhoeae.
PMID 42113870 · PMC13183285 · PLoS pathogens · 2026 · 8 claims · 8 setups
Each N. gonorrhoeae genome has on average 7 distinct opa alleles at 9-12 opa loci
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The fungal pathogen Rhizoctonia solani AG-8 has 2 nuclear haplotypes that differ in abundance.
PMID 41124349 · PMC12774589 · G3 (Bethesda, Md.) · 2026 · 8 claims · 8 setups
R. solani isolates AG8-1 and AG8-3 each possess 2 distinct nuclear haplotypes, each ~50 Mbp assembled into 16 chromosomes