Determining Performance Metrics for Targeted Next-Generation Sequencing Panels Using Reference Materials-Reference-Cited by-同舟云学术

Determining Performance Metrics for Targeted Next-Generation Sequencing Panels Using Reference Materials

Published:2018-09 Issue:5 Volume:20 Page:583-590
ISSN:1525-1578
Container-title:The Journal of Molecular Diagnostics
language:en
Short-container-title:The Journal of Molecular Diagnostics

Author:

Cleveland Megan H.^ORCID,Zook Justin M.,Salit Marc^ORCID,Vallone Peter M.

Publisher

Elsevier BV

Subject

Molecular Medicine,Pathology and Forensic Medicine

Reference23 articles.

1. Reproducible integration of multiple sequencing datasets to form high-confidence SNP, indel, and reference calls for five human genome reference materials;Zook;BioRxiv,2018

2. Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls;Zook;Nat Biotechnol,2014

3. Extensive sequencing of seven human genomes to characterize benchmark reference materials;Zook;Sci Data,2016

4. From wet-lab to variations: concordance and speed of bioinformatics pipelines for whole genome and whole exome sequencing;Laurie;Hum Mutat,2016

5. A comparison of variant calling pipelines using genome in a bottle as a reference;Cornish;Biomed Res Int,2015

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