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).

• Sequential sequencing reveals the architecture and complexity of genomic variants in patients with Alport syndrome.

  PMID 41872207 · PMC13171879 · Nature communications · 2026 · 8 claims · 7 setups

  Full-text index only

  A sequential sequencing strategy (WES→WGS→RNA-seq→NLR-seq) identifies COL4A3/COL4A4/COL4A5 variants in 509/555 (91.7%) of Alport syndrome patients

  chinese prediction-negative randomly minigene whole-exome whole-genome sequencing

• A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan.

  PMID 17187665 · PMC1764029 · BMC neurology · 2006 · 6 claims · 4 setups

  Full-text index only

  The G2385R variant in LRRK2 contributes significantly to the etiology of PD in ethnic Han Chinese individuals

  peripheral g2385r patients genotype pcr full clinical

• Cell type-specific epigenetic regulatory circuitry of coronary artery disease loci.

  PMID 41807385 · PMC12979833 · Nature communications · 2026 · 8 claims · 8 setups

  Full-text index only

  Integration of CAD GWAS summary statistics with epigenetic data from 45 cell types identifies 1580 candidate CAD genes

  cad-associated disease-relevant types cad variant epigenetic tf-snv

• COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.

  PMID 15756302 · PMC2673054 · European journal of human genetics : EJHG · 2005 · 8 claims · 4 setups

  Full-text index only

  COMP mutations were identified in 78% of families referred with PSACH

  genomic sequence subset pcr bidirectional sequence

• Mutation analysis of the AATF gene in breast cancer families.

  PMID 20025740 · PMC2806411 · BMC cancer · 2009 · 6 claims · 6 setups

  Full-text index only

  No AATF sequence alteration identified was predicted to be pathogenic or showed significant association with breast cancer risk

  genomic showing aatf case conformation direct pathogenicity

• A pharmacogenetics study of the human glucuronosyltransferase UGT1A4.

  PMID 19890225 · PMC6177227 · Pharmacogenetics and genomics · 2009 · 7 claims · 6 setups

  Full-text index only

  Extensive sequencing of UGT1A4 (promoter to exon 1+2000bp) identified numerous novel polymorphisms: 13 intronic, 39 promoter, and 14 exonic variants (10 causing amino acid changes)

  genomic hek293 hepg2 microsomes pcr site-directed luciferase

• Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation.

  PMID 41984969 · PMC13082330 · Science advances · 2026 · 8 claims · 6 setups

  Full-text index only

  STRIPE enables deep, haplotype-resolved sequencing of full-length transcripts for customized disease-specific gene panels to detect transcript aberrations and sequence variants

  skin gtex fibroblast cohort targeted untargeted short-read

• Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients.

  PMID 20057908 · PMC2802296 · Molecular vision · 2009 · 8 claims · 4 setups

  Full-text index only

  Mutations in CYP1B1 are a major cause of PCG in the studied patient cohort

  genomic cyp1b1 pcg pcr missense clinical

• Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.

  PMID 20057906 · PMC2802294 · Molecular vision · 2009 · 7 claims · 4 setups

  Full-text index only

  Screening of 32 Chinese patients with microphthalmia and/or coloboma across ten candidate genes revealed no clearly causative mutation.

  genomic unrelated bmp4 sanger restriction heteroduplex-single

• Molecular characterization of retinitis pigmentosa in Saudi Arabia.

  PMID 19956407 · PMC2786884 · Molecular vision · 2009 · 8 claims · 7 setups

  Full-text index only

  The causative mutation was identified in 51 of 52 (94%/98%) Saudi RP patients, including seven novel mutations.

  blood-derived families pcr-amplified ethnically genome-wide linkage bidirectional

• Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome.

  PMID 19901218 · PMC3514888 · Archives of ophthalmology (Chicago, Ill. : 1960) · 2009 · 8 claims · 4 setups

  Full-text index only

  No COL2A1 mutations were found, making ocular Stickler syndrome an unlikely diagnosis for this family

  genomic family complete pcr clinical

• Genomic Correlates of Virulence Attenuation in the Deadly Amphibian Chytrid Fungus, Batrachochytrium dendrobatidis.

  PMID 26333840 · PMC4632049 · G3 (Bethesda, Md.) · 2015 · 8 claims · 8 setups

  Has reproduction · 58

  Virulence attenuation in the longer-passaged Bd isolate (JEL427-P39) is associated with loss of chromosome copy number relative to the shorter-passaged, more virulent isolate (JEL427-P9)

  strain jel427-p9 genes whole-genome snp indel

• Human QTL linkage mapping.

  PMID 18668207 · PMC2761031 · Genetica · 2009 · 8 claims · 6 setups

  Full-text index only

  Human QTL linkage mapping remains a productive approach for complex traits despite the perception that it does not work, and will continue to be productive especially combined with RNA expression QTLs and dense SNP panels

  mexican pomc gene promoter genome-wide gene expression

• ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.

  PMID 18465152 · PMC2441586 · Neurogenetics · 2008 · 8 claims · 8 setups

  Full-text index only

  37% (16/43) of Dutch index patients with early-onset recessive cerebellar ataxia carry SACS mutations, indicating ARSACS is far more frequent than previously estimated

  genomic identified sacs-mutation-positive alleles pcr clinical brain

• Mechanisms of disease: genetic insights into the etiology of type 2 diabetes and obesity.

  PMID 18212765 · PMC7116808 · Nature clinical practice. Endocrinology & metabolism · 2008 · 8 claims · 8 setups

  Full-text index only

  Six high-density genome-wide association studies in over 19,000 individuals identified approximately ten T2D-susceptibility loci, including HHEX, IDE, SLC30A8, FTO, CDKAL1, CDKN2A/CDKN2B, and IGF2BP2.

  t2d icelandic population tcf7l2 genome-wide linkage candidate-gene

• Sequence variations of GRM6 in patients with high myopia.

  PMID 19862333 · PMC2765235 · Molecular vision · 2009 · 7 claims · 8 setups

  Full-text index only

  Three novel GRM6 variations with predicted functional consequences (c.67-82delCAGGCGGGCCTGGCGCinsT, c.858-5a>g, c.1537G>A) were found in high myopia patients but absent in 96 controls

  genomic pcr mglur6 grm6 pcr heteroduplex pcr-restriction

• The other side of comparative genomics: genes with no orthologs between the cow and other mammalian species.

  PMID 20003425 · PMC2808326 · BMC genomics · 2009 · 7 claims · 4 setups

  Full-text index only

  3,801 bovine genes have no orthologs in human, mouse and dog, and 1,010 human genes have no orthologs in cow despite having orthologs in mouse and dog

  bovine cow coding blast-based ensembl gene

• Polymorphism identification and improved genome annotation of Brassica rapa through Deep RNA sequencing.

  PMID 25122667 · PMC4232532 · G3 (Bethesda, Md.) · 2014 · 8 claims · 8 setups

  Has reproduction · 50

  330,995 SNPs were identified in transcribed regions between B. rapa genotypes R500 and IMB211, at an average frequency of one SNP per 200 bases.

  brassica r500 rapa genomic bulk reference-based snp