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).

• Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.

  PMID 18688868 · PMC2586182 · American journal of medical genetics. Part A · 2008 · 8 claims · 5 setups

  Full-text index only

  A novel missense mutation c.2576G→A (p.R859Q) in WFS1 exon 8 causes autosomal dominant LFSNHL in this American family

  genomic wfs1 ceph affected pcr sanger population

• A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin.

  PMID 18587493 · PMC2435161 · Molecular vision · 2008 · 6 claims · 4 setups

  Full-text index only

  A heterozygous c.262C>A mutation in GJA8 (connexin 50), causing p.P88Q, is associated with a novel 'balloon-like' cataract phenotype with prominent Y-sutural opacities in an Indian family.

  lens family genomic clinical family pcr

• Integration of cytogenetic landmarks into the draft sequence of the human genome.

  PMID 11237021 · PMC7845515 · Nature · 2001 · 8 claims · 6 setups

  Full-text index only

  7,600 cytogenetically defined landmarks (from a set of 8,877 clones) were placed on the draft sequence of the human genome as a public resource

  large-insert bac ml-2 dgap012 fluorescence sts array

• A response to Yu et al. "A forward-backward fragment assembling algorithm for the identification of genomic amplification and deletion breakpoints using high-density single nucleotide polymorphism (SNP) array", BMC Bioinformatics 2007, 8: 145.

  PMID 17939873 · PMC2222656 · BMC bioinformatics · 2007 · 8 claims · 4 setups

  Full-text index only

  Yu et al.'s original comparison ran RJaCGH's MCMC sampler for a severely insufficient number of iterations (50 burn-in, 500 total)

  simulated same mcmc-based direct original

• The complete genome sequence of Vibrio cholerae: a tale of two chromosomes and of two lifestyles.

  PMID 11178241 · PMC138858 · Genome biology · 2000 · 8 claims · 4 setups

  Full-text index only

  The V. cholerae O1 (El Tor) genome consists of two chromosomes with asymmetrically distributed gene functions

  vibrio whole-genome microarray expression

• The vertebrate genome annotation (Vega) database.

  PMID 18003653 · PMC2238886 · Nucleic acids research · 2008 · 8 claims · 8 setups

  Full-text index only

  Vega is a database for viewing manual genome annotation of human, mouse and zebrafish genomic sequences produced at the Wellcome Trust Sanger Institute.

  genome zebrafish pig nod manual comparative transcript

• Identity rather than 3D position informs splicing of rare introns in the human genome.

  PMID 41561379 · PMC12814444 · iScience · 2026 · 8 claims · 8 setups

  Has reproduction · 98

  Rare intron classes (minor, minor-like, hybrid, non-canonical) are largely dispersed across the linear human genome, with only two notable clusters (GBP on chr1, TSPY on chrY)

  reference genome k562 computational genome-wide chromomap hi-c

• Telomere-to-telomere reference genome for Panax ginseng highlights the evolution of saponin biosynthesis.

  PMID 38883331 · PMC11179851 · Horticulture research · 2024 · 8 claims · 8 setups

  Has reproduction · 92

  A telomere-to-telomere reference genome of P. ginseng was assembled (3.45 Gb, 24 chromosomes, 77266 protein-coding genes)

  panax ginseng whole-genome genome rna-seq

• Rapid detection, cloning and molecular cytogenetic characterisation of sequences from an MRP-encoding amplicon by chromosome microdissection.

  PMID 8018546 · PMC2033297 · British journal of cancer · 1994 · 7 claims · 6 setups

  Full-text index only

  Chromosome microdissection can be used to rapidly detect, clone and cytogenetically characterise amplified sequences from hsrs/dmins in drug-resistant cells

  ht1080 normal h69ar hsr micro-fish chromosome southern

• A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b.

  PMID 15953877 · PMC2782211 · Journal of Korean medical science · 2005 · 7 claims · 8 setups

  Full-text index only

  The patient is a compound heterozygote for two SLC37A4 mutations: c.1042_1043delCT (L348fs) and c.443C>T (A148V)

  liver genomic peripheral liver g6pase glucose-loading

• Vertebrate gene finding from multiple-species alignments using a two-level strategy.

  PMID 16925840 · PMC1810555 · Genome biology · 2006 · 8 claims · 5 setups

  Full-text index only

  DOGFISH cleanly separates a multi-species alignment classifier (RVM cascade) from an HMM-based structure predictor, avoiding tight coupling of alignment complexity with HMM formalism

  genomic encode entire chromosome multi-species hmm-based classifier

• Narcisse: a mirror view of conserved syntenies.

  PMID 17981845 · PMC2238891 · Nucleic acids research · 2008 · 8 claims · 4 setups

  Full-text index only

  Narcisse is a database/web tool providing an integrated, multi-level comparative analysis of sequence similarities and conserved chromosomal segments (syntenies) across animal, plant, fungal and bacterial completely sequenced genomes.

  annotated genome pairwise pairs sequence nucleic-level conserved

• Increased constraints on MC4R during primate and human evolution.

  PMID 19011902 · PMC9947067 · Human genetics · 2009 · 6 claims · 7 setups

  Full-text index only

  There is a significant paucity of genetic diversity at MC4R in humans but not in chimpanzees.

  hgdp-ceph germans central additional dhplc direct coding

• Analysis of recent segmental duplications in the bovine genome.

  PMID 19951423 · PMC2796684 · BMC genomics · 2009 · 8 claims · 6 setups

  Full-text index only

  Recently duplicated sequence (≥1 kb, ≥90% identity) comprises 3.11% (94.4 Mb) of the bovine genome assembly (Btau_4.0)

  bos bovine genes cattle genome fluorescent repeat

• Genome sequence, comparative analysis, and population genetics of the domestic horse.

  PMID 19892987 · PMC3785132 · Science (New York, N.Y.) · 2009 · 8 claims · 7 setups

  Full-text index only

  Produced a high-quality draft genome assembly of the domestic horse (EquCab2.0)

  single horse eight twelve genome fish chip-on-chip

• A novel de novo mutation in the serine-threonine kinase STK11 gene in a Korean patient with Peutz-Jeghers syndrome.

  PMID 18495044 · PMC2430547 · BMC medical genetics · 2008 · 8 claims · 3 setups

  Full-text index only

  Germline mutation of STK11 is responsible for Peutz-Jeghers syndrome

  peripheral chromosomes colonic pcr chromosome histopathological

• The chromosomal genome sequence of the moon jellyfish, Aurelia sp. 4 Dawson et al. 2005 (Semaeostomeae: Ulmaridae) and its associated microbial metagenome sequences.

  PMID 42116832 · PMC13157608 · Wellcome open research · 2026 · 7 claims · 8 setups

  Full-text index only

  Aurelia sp. 4 chromosomal genome assembly has a total length of 462.10 Mb with 99.99% of sequence scaffolded into 21 chromosomal pseudomolecules

  aurelia microbial pacbio hi-c rna-seq

• DiagHunter and GenoPix2D: programs for genomic comparisons, large-scale homology discovery and visualization.

  PMID 14519203 · PMC328457 · Genome biology · 2003 · 7 claims · 5 setups

  Full-text index only

  DiagHunter identifies large-scale synteny blocks within or between genomes efficiently despite background noise and genomic discontinuities, without performing sequence alignment

  arabidopsis synthetic blastp-based blastn-based simulation

• The genomic distribution of intraspecific and interspecific sequence divergence of human segmental duplications relative to human/chimpanzee chromosomal rearrangements.

  PMID 18699995 · PMC2542386 · BMC genomics · 2008 · 8 claims · 5 setups

  Full-text index only

  Some relatively recent (young) SDs accumulate in regions homologous to chromosomal inversions that occurred in the sister lineage

  genome sds chimpanzee colinear comparative interspecific genomic

• Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa.

  PMID 18509552 · PMC2391085 · Molecular vision · 2008 · 7 claims · 7 setups

  Full-text index only

  Point mutations and small insertions/deletions in TOPORS cause approximately 1% of adRP

  genomic unrelated additional patients fluorescent multiplex sequencing