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).

• Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes.

  PMID 17655765 · PMC1950490 · BMC medical genetics · 2007 · 8 claims · 3 setups

  Full-text index only

  No coding mutations were found in NR2E1 or SNX3 in five patients with MMEP or related phenotypes

  patients unaffected sanger restriction

• QuickSNP: an automated web server for selection of tagSNPs.

  PMID 17517769 · PMC1933212 · Nucleic acids research · 2007 · 7 claims · 3 setups

  Full-text index only

  QuickSNP is a freely available automated web server for selecting tagSNPs from a chromosomal region, genes within a region, or a specified gene list, with a gene-centric selection option

  genes selected chromosome automated gene-centric tagsnp

• A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family.

  PMID 19038017 · PMC2611973 · BMC medical genetics · 2008 · 6 claims · 3 setups

  Full-text index only

  A novel 4-base insertion mutation (1114insGAGT) in exon 2 of CDMP1 underlies Grebe-type chondrodysplasia in this Pakistani family

  peripheral genomic microsatellite direct mutation

• Association of CFH, LOC387715, and HTRA1 polymorphisms with exudative age-related macular degeneration in a northern Chinese population.

  PMID 18682812 · PMC2493029 · Molecular vision · 2008 · 7 claims · 3 setups

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  CFH Y402H (rs1061170) variant is not associated with exudative AMD in this northern Chinese cohort

  peripheral subset same pcr direct statistical

• Optical mapping discerns genome wide DNA methylation profiles.

  PMID 18667073 · PMC2516518 · BMC molecular biology · 2008 · 6 claims · 3 setups

  Full-text index only

  Methylated restriction sites can be identified in optical maps as cleavage sites that are absent relative to the in silico (sequence-based) restriction map, since most restriction enzymes fail to cut methylated cognate sequences.

  escherichia embryonic optical

• 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

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  Germline mutation of STK11 is responsible for Peutz-Jeghers syndrome

  peripheral chromosomes colonic pcr chromosome histopathological

• Rapid detection of carriers with BRCA1 and BRCA2 mutations using high resolution melting analysis.

  PMID 18298804 · PMC2266761 · BMC cancer · 2008 · 8 claims · 3 setups

  Full-text index only

  HRM correctly detects and distinguishes the three Ashkenazi Jewish BRCA1/BRCA2 founder mutations (185delAG, 5382insC, 6174delT) from wild type

  peripheral high

• Evolution of genomic sequence inhomogeneity at mid-range scales.

  PMID 19891785 · PMC2779198 · BMC genomics · 2009 · 7 claims · 3 setups

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  MRI regions have comparable levels of de novo mutations to control genomic sequences with average base composition.

  chimpanzee population genome whole-genome snp indel

• Sensitive detection of copy number alterations in low-pass liquid biopsy sequencing data.

  PMID 41838873 · PMC12991053 · Briefings in bioinformatics · 2026 · 8 claims · 3 setups

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  BayesCNA uses Bayesian changepoint (BCP) detection on posterior changepoint probabilities to segment the genome and reconstruct copy number profiles from low-pass liquid biopsy data.

  synthetically cell-line blood sequencing low-pass

• An "omics" approach to uropathogenic Escherichia coli vaccinology.

  PMID 19758805 · PMC2770165 · Trends in microbiology · 2009 · 8 claims · 8 setups

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  An 'omics'-based screening strategy integrating genomic, proteomic, and metabolomic data can identify PASivE UPEC proteins as vaccine candidates

  upec vaccination comparative two-dimensional

• Toxicogenomics: an emerging discipline.

  PMID 12460812 · PMC1241126 · Environmental health perspectives · 2002 · 8 claims · 6 setups

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  Toxicogenomics applies genomic tools (microarrays, proteomics, metabolomics) to characterize how cells and organisms respond to chemical/drug exposures.

  drug stated acetaminophen tissues microarray gene genomic

• Visualizing the genome: techniques for presenting human genome data and annotations.

  PMID 12149135 · PMC119855 · BMC bioinformatics · 2002 · 8 claims · 4 setups

  Full-text index only

  Web-based client-server genome browsers (e.g., LocusLink evidence viewer, UCSC genome browser) are limited by lack of true interactivity, requiring server round-trips for navigation

  flj22324 snurf arg1 plat cdna-to-genomic multi-track frame-of-translation

• Review of state Comprehensive Cancer Control plans for genomics content.

  PMID 15888219 · PMC1327702 · Preventing chronic disease · 2005 · 8 claims · 2 setups

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  18 of 30 state CCC plans analyzed contained genomics-related components, with wide variability in content

  written ccc content semistructured

• ASPIC: a web resource for alternative splicing prediction and transcript isoforms characterization.

  PMID 16845044 · PMC1538898 · Nucleic acids research · 2006 · 8 claims · 2 setups

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  The ASPIC algorithm, using an optimization procedure that minimizes splice site predictions and transcript isoforms from multiple EST-genome alignments, outperforms other similar AS-prediction tools in sensitivity and selectivity

  hnrpr specified comparative algorithm

• A haplotype variation affecting the mitochondrial transportation of hMYH protein could be a risk factor for colorectal cancer in Chinese.

  PMID 18811933 · PMC2565682 · BMC cancer · 2008 · 7 claims · 2 setups

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  The hMYH haplotype T/A variant allele is present at significantly higher frequency in CRC patients than in healthy controls

  peripheral cos-7 dhplc immunofluorescence

• Gene prediction in eukaryotes with a generalized hidden Markov model that uses hints from external sources.

  PMID 16469098 · PMC1409804 · BMC bioinformatics · 2006 · 7 claims · 3 setups

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  AUGUSTUS+ extends the AUGUSTUS GHMM by combining intrinsic sequence information with extrinsic hints via an extended emission alphabet, so the GHMM jointly models the DNA sequence, gene structure, and hint collection.

  chromosome genomic training ghmm-based sequence parameter

• Bases and spaces: resources on the web for accessing the draft human genome.

  PMID 11178254 · PMC138875 · Genome biology · 2000 · 8 claims · 8 setups

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  By combining currently available genomic databases and mapping resources (GenBank/Entrez, UniGene, RH maps, BAC fingerprint maps, Ensembl, NIX), it is possible to devise strategies that fully exploit the fragmentary draft human genome sequence.

  bac whole-genome draft submitted bac radiation initio

• The meso-genomic era.

  PMID 11516332 · PMC139414 · Genome biology · 2001 · 8 claims · 8 setups

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  Linkage disequilibrium (LD) between SNPs extends much further in Northern European populations (~120 kb) than in a Nigerian population (<10 kb), reflecting differing population histories (bottlenecks vs. constant expansion).

  genome chromosome families tomato snp haplotype genetic

• DDBJ in collaboration with mass-sequencing teams on annotation.

  PMID 15608189 · PMC539974 · Nucleic acids research · 2005 · 7 claims · 5 setups

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  DDBJ collected and released 1,066,084 entries (718,072,425 bases) in the past year, including the complete chimpanzee chromosome 22 sequence and silkworm whole-genome shotgun data

  chimpanzee silkworm mus homo whole-chromosome whole-genome cage

• Rats go genomic.

  PMID 16522223 · PMC1431730 · Genome biology · 2006 · 7 claims · 8 setups

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  A systems biology approach combining genome-wide expression profiling with expression QTL (eQTL) mapping can identify candidate genes underlying complex-disease QTLs

  recombinant genes serotonin adenomatous genome-wide targeted knockout