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).

• Tracing the origin of functional and conserved domains in the human proteome: implications for protein evolution at the modular level.

  PMID 17090320 · PMC1654190 · BMC evolutionary biology · 2006 · 8 claims · 5 setups

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  HHpred (HMM-HMM comparison) detects remote homologs in the human proteome with higher sensitivity than hmmpfam (HMMER), giving 10% more functional domain coverage and 20% higher residue coverage against Pfam-A families.

  proteome homo domains hmm-hmm hmm subtractive

• Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.

  PMID 18752264 · PMC2577713 · Human mutation · 2008 · 8 claims · 4 setups

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  40% (16/40) of WWS families in this diverse cohort received a molecular diagnosis with mutations in POMT1, POMT2, FKRP or FCMD

  genomic pomt2 population genome-wide pcr multiplex

• Insights into the coupling of duplication events and macroevolution from an age profile of animal transmembrane gene families.

  PMID 16895434 · PMC1534073 · PLoS computational biology · 2006 · 8 claims · 7 setups

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  The density of transmembrane gene duplicates positively correlates with the estimated maximum number of cell types of common ancestors

  transmembrane simulated age duplicate maximum kernel monte

• Rfam 15: RNA families database in 2025.

  PMID 39526405 · PMC11701678 · Nucleic acids research · 2025 · 8 claims · 6 setups

  Has reproduction · 68

  Rfamseq was expanded to 26,106 genomes, a 76% increase over Rfam 14.0, incorporating UniProt 2024_03 reference proteomes and additional viral genomes.

  rfamseq chains rfam hepatitis covariance structure-to-alignment covariation

• Genetics of autistic disorders: review and clinical implications.

  PMID 19941018 · PMC2839494 · European child & adolescent psychiatry · 2010 · 8 claims · 8 setups

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  AD are predominantly genetically determined disorders with heritability of around 90%.

  families individuals parietal post-mortem genome-wide candidate standard

• Genetics of bipolar disorder.

  PMID 18689285 · PMC3181866 · Dialogues in clinical neuroscience · 2008 · 8 claims · 6 setups

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  BP-I has a strong genetic component supported by segregation, adoption, and twin studies across populations

  multiplex pooled bp-affected monozygotic genome-wide genome candidate

• Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.

  PMID 17033964 · PMC1698567 · American journal of human genetics · 2006 · 7 claims · 4 setups

  Has reproduction · 75

  Heterozygous de novo point mutations in HCCS (missense p.R217C and nonsense p.R197X) cause X-linked dominant MLS in females with normal karyotypes

  patients family saccharomyces cho-k1 mutation deletion yeast

• Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval.

  PMID 18510646 · PMC2689154 · Annals of human genetics · 2008 · 7 claims · 5 setups

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  Direct sequencing of 43 candidate genes in 7 Spanish arRP families identified 244 sequence variants (76 novel), none pathogenic, excluding these genes as disease-causing.

  spanish rp5 population candidate direct comparative pcr

• Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.

  PMID 18616530 · PMC4732719 · Clinical genetics · 2008 · 8 claims · 8 setups

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  TMC1 mutations were identified in seven of the families/patients segregating hearing loss linked to DFNA36/DFNB7-11

  families affected tmc1 tjp2 genetic sequencing multiplex

• Managing incidental findings in human subjects research: analysis and recommendations.

  PMID 18547191 · PMC2575242 · The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics · 2008 · 8 claims · 5 setups

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  Little guidance currently exists on managing research IFs, and no consensus exists on the best approach across genetic/genomic and imaging research domains.

  affected large research consent linkage genomic structural

• Satellitome Analysis and Transposable Elements Comparison in Geographically Distant Populations of Spodoptera frugiperda.

  PMID 35455012 · PMC9026859 · Life (Basel, Switzerland) · 2022 · 8 claims · 5 setups

  Has reproduction · 67

  Most transposable elements are commonly shared across all eight geographically distant S. frugiperda samples, except Maverick and PIF/Harbinger elements which show divergent repeat copies

  frugiperda satellite million contigs comparative homology divergence

• Insights into vertebrate evolution from the chicken genome sequence.

  PMID 15693954 · PMC551526 · Genome biology · 2005 · 8 claims · 6 setups

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  Chicken has expanded gene families involved in egg production (e.g., avidin) and feather/scale/claw formation (avian-specific keratins) not present or lost in mammals

  red chicken whole-genome comparative synteny

• Identification, characterization and comparative genomics of chimpanzee endogenous retroviruses.

  PMID 16805923 · PMC1779541 · Genome biology · 2006 · 8 claims · 6 setups

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  The chimpanzee genome contains at least 42 separate families of endogenous retroviruses, 9 newly identified

  chimpanzee domains genomic hg16 genome-wide sequence ltr-ltr

• PRKCA and multiple sclerosis: association in two independent populations.

  PMID 16596167 · PMC1420678 · PLoS genetics · 2006 · 8 claims · 8 setups

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  PRKCA (protein kinase C alpha) on 17q24 is associated with MS in Finnish families

  finnish canadian unrelated blood snp dense multipoint

• Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

  PMID 16319823 · PMC1477589 · European journal of human genetics : EJHG · 2006 · 7 claims · 8 setups

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  ALX4 and MSX2 mutations contribute approximately equally to PFM/CB and cause skull defects that are usually clinically indistinguishable

  pfm selected point-mutation-negative family dhplc bidirectional multiplex

• Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.

  PMID 18818683 · PMC2756756 · Kidney international · 2008 · 8 claims · 8 setups

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  Developed an MLPA assay with PKD1 exon 1-33 probes designed at single base-pair mismatches with the six PKD1 pseudogenes to achieve locus specificity

  blood-derived blood crisp father mlpa long-range field

• MEROPS: the peptidase database.

  PMID 19892822 · PMC2808883 · Nucleic acids research · 2010 · 8 claims · 5 setups

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  MEROPS is a manually curated hierarchical classification of peptidases and protein inhibitors organized into protein species, families, and clans based on sequence and structural homology.

  archaean holotype c-x-c proteins comparative domain substrate

• Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects.

  PMID 19858129 · PMC3030964 · Journal of medical genetics · 2010 · 7 claims · 5 setups

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  Two unrelated PHP-I families each include at least one patient with a Gsα coding mutation (PHP-Ia) and another with GNAS imprinting defects (PHP-Ib)

  genomic erythrocyte gnas sanger methylation-specific microsatellite

• A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families.

  PMID 11506491 · PMC2364106 · British journal of cancer · 2001 · 8 claims · 2 setups

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  All seven North American melanoma-prone families carrying V126D share a haplotype consistent with a single common founder/ancestor for the mutation

  melanoma-prone haplotype microsatellite maximum

• Genetic testing among high-risk individuals in families with hereditary nonpolyposis colorectal cancer.

  PMID 14970868 · PMC2410159 · British journal of cancer · 2004 · 7 claims · 5 setups

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  A large fraction of high-risk individuals in mutation-positive HNPCC families does not undergo genetic testing despite its benefits.

  colorectal formalin-fixed germline first-degree microsatellite immunohistochemistry mutation