A comprehensive assessment of Next‐Generation Sequencing variants validation using a secondary technology

Recently, increasing innovations improved the accuracy of next generation sequencing (NGS) data. However, the validation of all NGS variants increased the cost and turn‐around time of clinical diagnosis, and therefore limited the further development of clinical applications. We aimed to comprehensively assess the necessity of validating NGS variants.

[1]  Gert Matthijs,et al.  Guidelines for diagnostic next-generation sequencing , 2016, European Journal of Human Genetics.

[2]  Hui Jiang,et al.  A reference human genome dataset of the BGISEQ-500 sequencer , 2017, GigaScience.

[3]  Bale,et al.  Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.

[4]  L. Rieseberg,et al.  A novel post hoc method for detecting index switching finds no evidence for increased switching on the Illumina HiSeq X , 2017, bioRxiv.

[5]  J. Mullikin,et al.  Systematic Evaluation of Sanger Validation of Next-Generation Sequencing Variants. , 2016, Clinical chemistry.

[6]  C. Hendrickson,et al.  Overview of Target Enrichment Strategies , 2015, Current protocols in molecular biology.

[7]  J. McPherson,et al.  Coming of age: ten years of next-generation sequencing technologies , 2016, Nature Reviews Genetics.

[8]  R. Sinke,et al.  Targeted Next‐Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics , 2013, Human mutation.

[9]  Asan,et al.  Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies , 2017, EBioMedicine.

[10]  Jefferey Chen,et al.  Sanger Confirmation Is Required to Achieve Optimal Sensitivity and Specificity in Next-Generation Sequencing Panel Testing. , 2016, The Journal of molecular diagnostics : JMD.

[11]  Jan Haas,et al.  The Role of Quality Control in Targeted Next-generation Sequencing Library Preparation , 2016, Genom. Proteom. Bioinform..

[12]  Gert Matthijs,et al.  Guidelines for diagnostic next-generation sequencing , 2015, European Journal of Human Genetics.

[13]  X. Kong,et al.  Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases , 2015, PloS one.

[14]  Eric W. Klee,et al.  Confirming Variants in Next-Generation Sequencing Panel Testing by Sanger Sequencing. , 2015, The Journal of molecular diagnostics : JMD.

[15]  Satish Bhatnagar,et al.  T E C H N I C a L a D V a N C E Open Access , 2022 .

[16]  Eric Vilain,et al.  Assessing the necessity of confirmatory testing for exome sequencing results in a clinical molecular diagnostic laboratory , 2014, Genetics in Medicine.