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).
-
Full-text index only
SPrUCE: Utilizing Ultraconserved Elements of DNA for Population-Level Genetic Diversity Estimation.
PMID 42026820 · PMC13106921 · Molecular ecology resources · 2026 · 7 claims · 5 setups
Naive diversity estimators applied directly to UCE alignments underestimate nucleotide diversity due to negative selection/conservation at the UCE core.
-
Has reproduction · 73
Design of a targeted blood transcriptional panel for monitoring immunological changes accompanying pregnancy.
PMID 38352867 · PMC10861739 · Frontiers in immunology · 2024 · 6 claims · 3 setups
A targeted panel of 176 transcripts plus 8 housekeeping genes was identified for monitoring immunological changes during pregnancy
-
Has reproduction · 85
Optimizing open data to support one health: best practices to ensure interoperability of genomic data from bacterial pathogens.
PMID 33103064 · PMC7568946 · One health outlook · 2020 · 8 claims · 3 setups
An open-access pathogen surveillance database (NCBI Pathogen Detection) plus contributor Best Practices enables FAIR, interoperable genomic data across human, animal, food, and environmental sources for One Health surveillance.
-
Full-text index only
A bioinformatics pipeline for a tick pathogen surveillance multiplex amplicon sequencing assay.
PMID 37247570 · PMC10878300 · Ticks and tick-borne diseases · 2023 · 7 claims · 3 setups
The MPAS pipeline is a portable, reproducible Nextflow-based bioinformatics pipeline that identifies and summarizes amplicon sequences produced by the MPAS assay.
-
Full-text index only
Mutation and deletion analysis of GFR alpha-1, encoding the co-receptor for the GDNF/RET complex, in human brain tumours.
PMID 10408842 · PMC2362327 · British journal of cancer · 1999 · 8 claims · 3 setups
No mutations were found in the coding region of GDNF in any of the 36 brain tumours analysed
-
Full-text index only
Mutations of the BRCA1 and BRCA2 genes in patients with bilateral breast cancer.
PMID 11556836 · PMC2375067 · British journal of cancer · 2001 · 7 claims · 3 setups
BRCA1 and BRCA2 mutations are not significantly more prevalent in patients with bilateral breast cancer than in matched unilateral controls
-
Full-text index only
DNA methylation profiling of the human major histocompatibility complex: a pilot study for the human epigenome project.
PMID 15550986 · PMC529316 · PLoS biology · 2004 · 8 claims · 3 setups
The human MHC methylation profile is strongly bimodal, with the vast majority of analysed regions being either hypo- (≤30%) or hypermethylated (≥70%)
-
Full-text index only
Protozoan genomics for drug discovery.
PMID 16151400 · PMC7096809 · Nature biotechnology · 2005 · 8 claims · 3 setups
Complete genome sequences of five protozoan parasites (Theileria parva, T. annulata, Leishmania major, Trypanosoma brucei, T. cruzi) were reported, enabling comparative genomics.
-
Full-text index only
Rare germline mutations in the BRCA2 gene are associated with early-onset prostate cancer.
PMID 17700570 · PMC2360390 · British journal of cancer · 2007 · 8 claims · 3 setups
Germline protein-truncating BRCA2 mutations confer an elevated relative risk (~7.8-fold) of early-onset prostate cancer in Caucasian men
-
Full-text index only
Mitochondrial DNA aberrations of bone marrow cells from patients with aplastic anemia.
PMID 19119453 · PMC2610644 · Journal of Korean medical science · 2008 · 7 claims · 3 setups
Bone marrow cells from AA patients show significantly more mtDNA aberrations (mean=25.6) than healthy controls (mean=12.8)
-
Full-text index only
Novel mutations in GJA1 cause oculodentodigital syndrome.
PMID 18946008 · PMC2588666 · Journal of dental research · 2008 · 8 claims · 3 setups
Heterozygous missense mutations in GJA1 were found in all analyzed ODD-affected individuals across ten unrelated families
-
Full-text index only
Decoding of superimposed traces produced by direct sequencing of heterozygous indels.
PMID 18654614 · PMC2429969 · PLoS computational biology · 2008 · 7 claims · 3 setups
A dynamic programming method (implemented as web app Indelligent) can decode superimposed allelic sequences from a single mixed trace, using only the observed string of ambiguous peak calls, without a reference sequence or reverse trace.
-
Full-text index only
Understanding incidental findings in the context of genetics and genomics.
PMID 18547195 · PMC2581745 · The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics · 2008 · 8 claims · 3 setups
No consensus exists on researchers' responsibilities to disclose individual genetic/genomic research results to participants.
-
Full-text index only
Mutation patterns of mtDNA: empirical inferences for the coding region.
PMID 18518963 · PMC2438339 · BMC evolutionary biology · 2008 · 5 claims · 3 setups
Heteroplasmy was detected in 6.5% (3/46) of Azorean families analyzed, all caused by new point mutations with no insertions/deletions.
-
Full-text index only
Adequate use of allele frequencies in Hispanics--a problem elucidated in nephrotic syndrome.
PMID 19876656 · PMC2899680 · Pediatric nephrology (Berlin, Germany) · 2010 · 7 claims · 3 setups
Self-identified Hispanic SRNS patients in the USA are genetically heterogeneous, being of either Caucasian or Mesoamerican (Native-American) descent
-
Full-text index only
Alignoth: portable and interactive visualization of read alignments.
PMID 41392197 · PMC12777968 · Bioinformatics (Oxford, England) · 2026 · 8 claims · 3 setups
Alignoth is a command-line tool that generates self-contained, portable HTML reports of DNA sequencing read alignment pileups, with export to PNG, SVG, PDF, and JSON.
-
Full-text index only
Sensitive detection of copy number alterations in low-pass liquid biopsy sequencing data.
PMID 41838873 · PMC12991053 · Briefings in bioinformatics · 2026 · 8 claims · 3 setups
BayesCNA uses Bayesian changepoint (BCP) detection on posterior changepoint probabilities to segment the genome and reconstruct copy number profiles from low-pass liquid biopsy data.
-
Has reproduction · 75
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.
PMID 17033964 · PMC1698567 · American journal of human genetics · 2006 · 7 claims · 4 setups
Heterozygous de novo point mutations in HCCS (missense p.R217C and nonsense p.R197X) cause X-linked dominant MLS in females with normal karyotypes
-
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.
-
Has reproduction · 78
Widespread mono- and oligoadenylation direct small noncoding RNA maturation versus degradation fates.
PMID 41350938 · PMC12811392 · The EMBO journal · 2026 · 8 claims · 2 setups
Post-transcriptional adenylation of newly transcribed sncRNAs is widespread and occurs in two distinct varieties: transient oligoadenylation and stable monoadenylation