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).

• isoSeQL: comparing long-read isoforms across multiple datasets.

  PMID 41452740 · PMC12790818 · Bioinformatics (Oxford, England) · 2026 · 8 claims · 4 setups

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  isoSeQL enables comparison of long-read isoform profiles across multiple datasets by consolidating SQANTI3-annotated samples into a unified SQLite database with consistent isoform IDs

  gencode simulated gm12878 peripheral intron simulated long-read

• Organelle Genomes and Transcriptomes of Nymphaea Reveal the Interplay between Intron Splicing and RNA Editing.

  PMID 34576004 · PMC8466565 · International journal of molecular sciences · 2021 · 8 claims · 8 setups

  Has reproduction · 76

  Both cis- and trans-splicing group II introns in Nymphaea organelle genomes are spliced in random order, generating diverse co-existing intermediates rather than following a fixed splicing sequence.

  nymphaea joey liriodendron pacbio illumina strand-specific

• Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM.

  PMID 18565236 · PMC2442058 · BMC medical genetics · 2008 · 7 claims · 6 setups

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  The combined LD-PCR/DHPLC diagnostic strategy achieved a 100% mutation detection rate across 122 Taiwanese hemophilia A families.

  genomic pcr long-distance pcr sanger

• Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12).

  PMID 19929093 · PMC2945731 · The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2009 · 8 claims · 4 setups

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  The translocation breakpoints disrupt SLC31A1 (intron 1) on chromosome 9 and a predicted gene containing CCL2 (5'UTR/exons) on chromosome 17

  family genomic case-control case fluorescence long-range mutation

• Transcriptional readthrough precedes alternative splicing programs triggered in CML cells by imatinib.

  PMID 41860998 · PMC13004010 · Science advances · 2026 · 8 claims · 6 setups

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  Imatinib treatment induces transcriptional readthrough in K562 CML cells within 1 hour, before detectable gene expression or alternative splicing changes

  k562 imatinib-resistant long-read short-read rt-qpcr

• Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa.

  PMID 20011630 · PMC2790479 · Molecular vision · 2009 · 8 claims · 5 setups

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  MDH1 is not the causative gene for RP28-linked autosomal recessive retinitis pigmentosa

  genomic lr-pcr uhts v-4 long-range ultra sanger

• Free circular introns with an unusual branchpoint in neuronal projections.

  PMID 31697236 · PMC6879206 · eLife · 2019 · 8 claims · 7 setups

  Has reproduction · 99

  A set of free circular introns with a non-canonical (C) branchpoint is enriched in distal neuronal projections; these appear to be tailless lariats that escape debranching.

  hippocampal cytoplasmic rrna-depleted polya-site ribosome

• Genomic structure and alterations of homeobox gene CDX2 in colorectal carcinomas.

  PMID 10027310 · PMC2362430 · British journal of cancer · 1999 · 8 claims · 6 setups

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  CDX2 expression is decreased in colorectal carcinomas in prior studies

  genomic sporadic hnpcc carcinoma standard pcr-sscp cloning

• Dysregulation of alternative splicing patterns in the ovaries of reproductively aged mice.

  PMID 41630016 · PMC13046076 · Reproduction (Cambridge, England) · 2026 · 8 claims · 5 setups

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  Reproductive aging in mouse ovaries is associated with widespread alternative splicing changes, including shifts in exon usage, splice site selection, and transcript boundaries.

  ovary computational direct cryosectioning translation

• annotate_my_genomes: an easy-to-use pipeline to improve genome annotation and uncover neglected genes by hybrid RNA sequencing.

  PMID 36472574 · PMC9724561 · GigaScience · 2022 · 7 claims · 8 setups

  Has reproduction · 78

  annotate_my_genomes is an easy-to-use genome-guided pipeline that uses hybrid (PacBio+Illumina) assembled transcripts to distinguish coding genes from long non-coding RNAs and reconcile them with prior annotations.

  chick real simulated pacbio illumina hybrid

• Eight previously unidentified mutations found in the OA1 ocular albinism gene.

  PMID 16646960 · PMC1468396 · BMC medical genetics · 2006 · 7 claims · 5 setups

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  Sequencing of the nine OA1 exons in 72 individuals identified ten different mutations across seven unrelated families and three sporadic cases.

  genomic oa1 direct long-range splice-site

• Glucocorticoid resistance in a multiple myeloma cell line is regulated by a transcription elongation block in the glucocorticoid receptor gene (NR3C1).

  PMID 19133980 · PMC4303606 · British journal of haematology · 2009 · 7 claims · 6 setups

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  Downregulation of GR mRNA in the resistant myeloma cell line is caused by a block to transcriptional elongation within intron B of the GR gene

  mm.1s pcr demethylating quantitative

• A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions.

  PMID 41820575 · PMC13083237 · Nature genetics · 2026 · 5 claims · 3 setups

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  A genome-wide association study identifies a major risk locus for aFTLD-U on chromosome 15q14, with lead SNP rs549846383 (P=5.85×10^-21, OR=26.7)

  pathologically additional individuals genome-wide case-control long-read

• Chromosome-level genome assembly of agar-producing red seaweed Gracilaria vermiculophylla.

  PMID 41629338 · PMC12966425 · Scientific data · 2026 · 8 claims · 8 setups

  Has reproduction · 91

  Assembled the first chromosome-level genome of G. vermiculophylla: 77.5 Mb, 22 pseudochromosomes, contig N50 2.61 Mb, scaffold N50 3.16 Mb

  vermiculophylla assembled predicted genome short-read nanopore hi-c

• Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report.

  PMID 17134502 · PMC1684248 · BMC medical genetics · 2006 · 8 claims · 8 setups

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  An intragenic deletion of 3,059 bp within the PITX2 gene, spanning the end of exon 5 through the start of exon 6, causes this family's severe ARS phenotype

  genomic lymphoblastoid i-2 patients pcr quantitative long-range

• Evolution of Highly Repetitive Silk Genes in the Luna Moth, Actias luna.

  PMID 41738778 · PMC12962854 · Genome biology and evolution · 2026 · 8 claims · 6 setups

  Has reproduction · 89

  Eight sericin genes were identified in the A. luna genome, including two clusters of closely related paralogs (serB-D and serE-G)

  luna four sericin blast nhmmer manual

• Molecular genetics and structural genomics of the human protein kinase C gene module.

  PMID 11897026 · PMC88812 · Genome biology · 2002 · 8 claims · 4 setups

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  The nine human PKC genes are dispersed throughout the genome, with five isotypes (α, β, δ, ζ, ι) previously incorrectly assigned to chromosomes in the literature.

  metaphase genome pkc genomic fluorescence bioinformatic snp

• Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.

  PMID 17436019 · PMC1914248 · Human genetics · 2007 · 7 claims · 8 setups

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  A homozygous 63.1-kb intragenic deletion in LARGE (exons 9-10) causes Walker-Warburg syndrome in a consanguineous Saudi family

  genomic family skeletal blood microsatellite direct multiplex

• Identification of herpesvirus transcripts from genomic regions around the replication origins.

  PMID 37773348 · PMC10541914 · Scientific reports · 2023 · 8 claims · 8 setups

  Has reproduction · 59

  Herpesviruses display distinct patterns of transcriptional overlaps near or at the replication origins (Oris)

  nine same vzv prv direct cage-seq qrt-pcr