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).

• DoBSeqWF: a framework for sensitive detection of individual genetic variation in pooled sequencing data.

  PMID 41704565 · PMC12907731 · NAR genomics and bioinformatics · 2026 · 7 claims · 5 setups

  Full-text index only

  DoBSeqWF, a Nextflow-based pipeline, processes pooled DoBSeq sequencing data through alignment, variant calling, machine-learning-based filtering, and variant pinpointing/assignment to individuals.

  individual pooled individuals gatk-called whole-genome overlapped simulated

• Mutation survey of known LCA genes and loci in the Saudi Arabian population.

  PMID 18936139 · PMC2695987 · Investigative ophthalmology & visual science · 2009 · 7 claims · 4 setups

  Full-text index only

  Mutations in the 13 known LCA genes were identified in only 24% (9/37) of Saudi Arabian LCA families, far lower than the ~65% mutation detection rate reported in European populations

  leukocyte affected kkesh-060 direct str homozygosity

• PAX6 gene variations associated with aniridia in south India.

  PMID 15086958 · PMC419353 · BMC medical genetics · 2004 · 7 claims · 5 setups

  Full-text index only

  Mutations in PAX6 cause the aniridia phenotype via haploinsufficiency (loss-of-function/null alleles)

  genomic pcr aniridia sscp automated allele-specific

• Somatic deletion of the NF1 gene in a neurofibromatosis type 1-associated malignant melanoma demonstrated by digital PCR.

  PMID 16961930 · PMC1570477 · Molecular cancer · 2006 · 8 claims · 6 setups

  Full-text index only

  Somatic deletion of the maternal NF1 allele occurred in the melanoma of an NF1 patient, demonstrating biallelic NF1 inactivation.

  peripheral microdissected formalin-fixed microsatellite conventional digital

• An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.

  PMID 25914166 · PMC4830354 · American journal of medical genetics. Part A · 2015 · 7 claims · 8 setups

  Has reproduction

  HRAS c.179G>A (p.Gly60Asp) causes an attenuated Costello syndrome phenotype without severe failure-to-thrive, intellectual disability, or cancer predisposition

  cos-7 transiently patients parental ras co-immunoprecipitation immunoblotting

• The genome of Brugia malayi - all worms are not created equal.

  PMID 18952001 · PMC2668601 · Parasitology international · 2009 · 8 claims · 8 setups

  Full-text index only

  Comparative genome analysis shows conserved long-range synteny but divergent local gene order between B. malayi and C. elegans, reflecting distinct evolutionary trajectories of parasitic and free-living lineages.

  malayi elegans wbm-infected filarial whole-genome genome-wide comparative