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Deep whole-genome sequencing of 3 cancer cell lines on 2 sequencing platforms
by
Robine, Nicolas
, Sanghvi, Rashesh
, Zody, Michael C.
, Arora, Kanika
, Oschwald, Dayna M.
, Nagulapalli, Kshithija
, Germer, Soren
, Shah, Minita
, Johnson, Molly
, Carter, Jade
, Jobanputra, Vaidehi
, Shelton, Jennifer
in
45/23
/ 631/114/2785
/ 631/61/212
/ 631/67/69
/ Algorithms
/ Alleles
/ Calibration
/ Cancer
/ Cell Line, Tumor
/ Computational Biology
/ False Positive Reactions
/ Gene Expression Profiling
/ Genetic Variation
/ Genome, Human
/ Genomes
/ Genomics
/ High-Throughput Nucleotide Sequencing - methods
/ Humanities and Social Sciences
/ Humans
/ multidisciplinary
/ Neoplasms - genetics
/ Pipelines
/ Reproducibility of Results
/ Science
/ Science (multidisciplinary)
/ Sequence Analysis, DNA
/ Tumor cell lines
/ Whole genome sequencing
/ Whole Genome Sequencing - methods
2019
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Deep whole-genome sequencing of 3 cancer cell lines on 2 sequencing platforms
by
Robine, Nicolas
, Sanghvi, Rashesh
, Zody, Michael C.
, Arora, Kanika
, Oschwald, Dayna M.
, Nagulapalli, Kshithija
, Germer, Soren
, Shah, Minita
, Johnson, Molly
, Carter, Jade
, Jobanputra, Vaidehi
, Shelton, Jennifer
in
45/23
/ 631/114/2785
/ 631/61/212
/ 631/67/69
/ Algorithms
/ Alleles
/ Calibration
/ Cancer
/ Cell Line, Tumor
/ Computational Biology
/ False Positive Reactions
/ Gene Expression Profiling
/ Genetic Variation
/ Genome, Human
/ Genomes
/ Genomics
/ High-Throughput Nucleotide Sequencing - methods
/ Humanities and Social Sciences
/ Humans
/ multidisciplinary
/ Neoplasms - genetics
/ Pipelines
/ Reproducibility of Results
/ Science
/ Science (multidisciplinary)
/ Sequence Analysis, DNA
/ Tumor cell lines
/ Whole genome sequencing
/ Whole Genome Sequencing - methods
2019
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Deep whole-genome sequencing of 3 cancer cell lines on 2 sequencing platforms
by
Robine, Nicolas
, Sanghvi, Rashesh
, Zody, Michael C.
, Arora, Kanika
, Oschwald, Dayna M.
, Nagulapalli, Kshithija
, Germer, Soren
, Shah, Minita
, Johnson, Molly
, Carter, Jade
, Jobanputra, Vaidehi
, Shelton, Jennifer
in
45/23
/ 631/114/2785
/ 631/61/212
/ 631/67/69
/ Algorithms
/ Alleles
/ Calibration
/ Cancer
/ Cell Line, Tumor
/ Computational Biology
/ False Positive Reactions
/ Gene Expression Profiling
/ Genetic Variation
/ Genome, Human
/ Genomes
/ Genomics
/ High-Throughput Nucleotide Sequencing - methods
/ Humanities and Social Sciences
/ Humans
/ multidisciplinary
/ Neoplasms - genetics
/ Pipelines
/ Reproducibility of Results
/ Science
/ Science (multidisciplinary)
/ Sequence Analysis, DNA
/ Tumor cell lines
/ Whole genome sequencing
/ Whole Genome Sequencing - methods
2019
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Deep whole-genome sequencing of 3 cancer cell lines on 2 sequencing platforms
Journal Article
Deep whole-genome sequencing of 3 cancer cell lines on 2 sequencing platforms
2019
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Overview
To test the performance of a new sequencing platform, develop an updated somatic calling pipeline and establish a reference for future benchmarking experiments, we performed whole-genome sequencing of 3 common cancer cell lines (COLO-829, HCC-1143 and HCC-1187) along with their matched normal cell lines to great sequencing depths (up to 278x coverage) on both Illumina HiSeqX and NovaSeq sequencing instruments. Somatic calling was generally consistent between the two platforms despite minor differences at the read level. We designed and implemented a novel pipeline for the analysis of tumor-normal samples, using multiple variant callers. We show that coupled with a high-confidence filtering strategy, the use of combination of tools improves the accuracy of somatic variant calling. We also demonstrate the utility of the dataset by creating an artificial purity ladder to evaluate the somatic pipeline and benchmark methods for estimating purity and ploidy from tumor-normal pairs. The data and results of the pipeline are made accessible to the cancer genomics community.
Publisher
Nature Publishing Group UK,Nature Publishing Group
Subject
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