ArticleGenomics2013
Whole exome sequencing reveals minimal differences between cell line and whole blood derived DNA.
Article in Genomics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
9 citing papers in PubMed.
- New iPSC resource with long-read whole genome sequencing characterizations for enhanced in vitro modeling.bioRxiv : the preprint server for biology · 2025Article
- A high-throughput real-time PCR tissue-of-origin test to distinguish blood from lymphoblastoid cell line DNA for (epi)genomic studies.Scientific reports · 2022Article
- Comparison of mitochondrial DNA sequences from whole blood and lymphoblastoid cell lines.Scientific reports · 2022Article
- Limitations of lymphoblastoid cell lines for establishing genetic reference datasets in the immunoglobulin loci.PloS one · 2021Article
- Article
- Integrity of genome-wide genotype data from low passage lymphoblastoid cell lines.Genomics data · 2016Article
- αIIbβ3 variants defined by next-generation sequencing: predicting variants likely to cause Glanzmann thrombasthenia.Proceedings of the National Academy of Sciences of the United States of America · 2015Article
- Whole-genome sequencing of quartet families with autism spectrum disorder.Nature medicine · 2015Article
- Extraction and annotation of human mitochondrial genomes from 1000 Genomes Whole Exome Sequencing data.BMC genomics · 2014Article
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13 authors.
Funding
Abstract
Two common sources of DNA for whole exome sequencing (WES) are whole blood (WB) and immortalized lymphoblastoid cell line (LCL). However, it is possible that LCLs have a substantially higher rate of mutation than WB, causing concern for their use in sequencing studies. We compared results from paired WB and LCL DNA samples for 16 subjects, using LCLs of low passage number (<5). Using a standard analysis pipeline we detected a large number of discordant genotype calls (approximately 50 per subject) that we segregated into categories of "confidence" based on read-level quality metrics. From these categories and validation by Sanger sequencing, we estimate that the vast majority of the candidate differences were false positives and that our categories were effective in predicting valid sequence differences, including LCLs with putative mosaicism for the non-reference allele (3-4 per exome). These results validate the use of DNA from LCLs of low passage number for exome sequencing.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.