AI Article Synopsis

  • Esophageal adenocarcinoma (EAC) has a high level of genetic mutations and diversity, yet there are few cell lines for research with limited genetic characterization.
  • The study conducted whole genome sequencing on eight EAC cell lines and one high-grade dysplasia cell line, verifying them against original patient samples, to create a more comprehensive mutational profile.
  • The results include detailed information on mutations, insertions, deletions, and copy number variations, aiding in the understanding of EAC and enhancing the relevance of these cell lines as models for future research.

Article Abstract

Esophageal adenocarcinoma (EAC) is highly mutated and molecularly heterogeneous. The number of cell lines available for study is limited and their genome has been only partially characterized. The availability of an accurate annotation of their mutational landscape is crucial for accurate experimental design and correct interpretation of genotype-phenotype findings. We performed high coverage, paired end whole genome sequencing on eight EAC cell lines-ESO26, ESO51, FLO-1, JH-EsoAd1, OACM5.1 C, OACP4 C, OE33, SK-GT-4-all verified against original patient material, and one esophageal high grade dysplasia cell line, CP-D. We have made available the aligned sequence data and report single nucleotide variants (SNVs), small insertions and deletions (indels), and copy number alterations, identified by comparison with the human reference genome and known single nucleotide polymorphisms (SNPs). We compare these putative mutations to mutations found in primary tissue EAC samples, to inform the use of these cell lines as a model of EAC.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4991527PMC
http://dx.doi.org/10.12688/f1000research.7033.1DOI Listing

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