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).

• Mice and more.

  PMID 14519193 · PMC328447 · Genome biology · 2003 · 8 claims · 7 setups

  Full-text index only

  A multispecies weighted conservation score, which accounts for each species' divergence rate, can identify conserved non-coding sequences (multispecies conserved sequences, MCSs) likely to be biologically significant

  cftr ciona embryonic chromosome comparative genome bac-based

• Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy.

  PMID 15084222 · PMC419352 · BMC medical genetics · 2004 · 6 claims · 5 setups

  Full-text index only

  DHPLC gene scanning of the CFTR gene increases the mutation detection rate compared to standard commercial mutation panel screening alone

  genomic pcr cftr inno-lipa pcr agarose

• Different molecular patterns in glioblastoma multiforme subtypes upon recurrence.

  PMID 19644652 · PMC2811648 · Journal of neuro-oncology · 2010 · 7 claims · 5 setups

  Full-text index only

  Type 1 GBM (p53 mutation, no EGFR amplification) and type 2 GBM (EGFR amplification, no p53 mutation) conserve their original molecular pattern at relapse.

  paired gbm sequencing semiquantitative microsatellite

• Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders.

  PMID 19092437 · PMC2810953 · Genetics in medicine : official journal of the American College of Medical Genetics · 2008 · 8 claims · 5 setups

  Full-text index only

  CFTR-related disorders form a disease spectrum ranging from isolated congenital absence of the vas deferens (CAVD) to multiorgan classic cystic fibrosis (CF).

  patients newborns sweat transepithelial cftr

• Evaluating sequence data quality from the Swift Accel-Amplicon CFTR Panel.

  PMID 31913291 · PMC6949293 · Scientific data · 2020 · 6 claims · 7 setups

  Has reproduction · 89

  The Accel-Amplicon CFTR panel generates sequencing data with high coverage depth and near 100% on-target reads.

  genomic adapted aligned pcr amplicon multiplex qpcr

• Large genomic rearrangements in the CFTR gene contribute to CBAVD.

  PMID 17448246 · PMC1876208 · BMC medical genetics · 2007 · 7 claims · 6 setups

  Full-text index only

  Large genomic rearrangements in CFTR contribute to CBAVD and should be systematically investigated alongside point mutation screening

  genomic pcr cftr semi-quantitative junction direct

• Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.

  PMID 18951463 · PMC2785447 · Human mutation · 2008 · 5 claims · 5 setups

  Full-text index only

  R1070P and R1070W CFTR mutants show apical membrane localization/insertion defects consistent with their associated disease severity

  polarized mdck mdck-cftr patients confocal surface western

• Evolutionary analysis of the highly dynamic CHEK2 duplicon in anthropoids.

  PMID 18831734 · PMC2566985 · BMC evolutionary biology · 2008 · 8 claims · 6 setups

  Full-text index only

  CHEK2 is present as a single copy in New World monkeys, Old World monkeys, and gibbons

  metaphase chek2 blood-derived y-chromosomal comparative phylogenetic inter-species

• Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?

  PMID 15287992 · PMC509248 · BMC medical genetics · 2004 · 8 claims · 7 setups

  Full-text index only

  A CF-causing second mutation (c.3199del6 or the novel c.3395insA) was found in cis with p.I148T in all CF patients in this cohort who carried p.I148T

  genomic family chromosomes hela dgge oligonucleotide restriction

• Germline truncating mutations in both MSH2 and BRCA2 in a single kindred.

  PMID 14735197 · PMC2409581 · British journal of cancer · 2004 · 8 claims · 8 setups

  Full-text index only

  Kindred MON1080 carries germline truncating mutations in both MSH2 and BRCA2, with two family members being double heterozygotes

  colonic astrocytoma breast microdissected immunohistochemistry microsatellite truncation

• Complex genetic diseases: controversy over the Croesus code.

  PMID 11532206 · PMC138948 · Genome biology · 2001 · 8 claims · 3 setups

  Full-text index only

  The common disease/common variant hypothesis is predicted by population genetic theory (founder population dynamics, mutation-drift-selection balance) and supported by empirical examples such as APOE*E4.

  chromosome northern disease large-scale genome-wide database

• Comparative genomics.

  PMID 14624258 · PMC261895 · PLoS biology · 2003 · 8 claims · 7 setups

  Full-text index only

  Conserved DNA between species tends to encode shared functional features, while divergent DNA underlies species differences

  caenorhabditis yeast mammalian vertebrate whole-genome comparative interspecies-similarity-informed

• Of rats and men.

  PMID 15003114 · PMC395761 · Genome biology · 2004 · 8 claims · 10 setups

  Full-text index only

  The rat genome has been sequenced to draft level, with over 90% of the genome sampled using more than 36 million sequence reads (assembly version 3.1)

  rattus cftr fugu transgenic whole-genome comparative genome

• Improvements to GALA and dbERGE II: databases featuring genomic sequence alignment, annotation and experimental results.

  PMID 15608239 · PMC539999 · Nucleic acids research · 2005 · 8 claims · 8 setups

  Full-text index only

  GALA is now a set of interlinked relational databases covering five vertebrate species: human, chimpanzee, mouse, rat and chicken.

  chromosome genomic comparative phylohmmcons conserved