2021
DOI: 10.1038/s41587-021-01049-5
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Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study

Abstract: Peer review information Nature Biotechnology thanks the anonymous reviewers for their contribution to the peer review of this work.

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Cited by 77 publications
(60 citation statements)
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References 55 publications
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“…However, this can be overcome with documentation and careful analysis. What remains challenging, especially for SV identification, seems to be the heterogeneous study design especially across sequencing centers [ 30 ]. This is important for consideration of small to midsize projects, but unavoidable for large scale studies such as TOPMed etc.…”
Section: Discussionmentioning
confidence: 99%
“…However, this can be overcome with documentation and careful analysis. What remains challenging, especially for SV identification, seems to be the heterogeneous study design especially across sequencing centers [ 30 ]. This is important for consideration of small to midsize projects, but unavoidable for large scale studies such as TOPMed etc.…”
Section: Discussionmentioning
confidence: 99%
“…DNA nanoballs (DNBs) were generated with the ssDNA circle by rolling circle replication (RCR) to enlarge the fluorescent signals at the sequencing process. The DNBs were loaded into the patterned nanoarrays and single-end read of 50 bp were read through on the BGISEQ-500 platform (BGI, Shenzhen, China) [14].…”
Section: Elevated Zero Maze Testmentioning
confidence: 99%
“…The SEQC2 project had three specific aims: (i) develop reference materials that could be shared by laboratories for standardized evaluation of NGS technologies, (ii) benchmark the impact of experimental and bioinformatic variables on the generation and analysis of NGS data and, (iii) evaluate inter- and intra-lab reproducibility of NGS technologies across different laboratories [ 8 ].…”
Section: The Sequencing Quality Control Phase 2 (Seqc2) Consortiummentioning
confidence: 99%
“…Performance was evaluated according to read alignment and coverage, error rates, and the sensitivity and specificity for correctly detecting known germline and structural variants in the reference genomes. These metrics were then stratified across genome, regions including repeats, transposons, duplicated, and challenging regions of the human genome [ 8 ].…”
Section: Germline Variantsmentioning
confidence: 99%