| P50 | author | Zafer Yuksel | Q85202089 |
| P2093 | author name string | Peter Bauer | |
| | Shivendra Kishore | |
| | Martin Werber | |
| | Omid Paknia | |
| | Arndt Rolfs | |
| | Aida M Bertoli-Avella | |
| | Krishna Kumar Kandaswamy | |
| | Volkmar Weckesser | |
| | Maximilian E R Weiss | |
| | Ellen Karges | |
| | Gabriela E Oprea | |
| | Malgorzata Bochinska | |
| P2860 | cites work | Enrichment of sequencing targets from the human genome by solution hybridization | Q21183896 |
| | Fast and accurate short read alignment with Burrows-Wheeler transform | Q24653853 |
| | The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data | Q27860742 |
| | ACMG clinical laboratory standards for next-generation sequencing | Q33903280 |
| | Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing. | Q34397126 |
| | An integrative variant analysis pipeline for accurate genotype/haplotype inference in population NGS data | Q34538741 |
| | Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations | Q34590503 |
| | Validation of next generation sequencing technologies in comparison to current diagnostic gold standards for BRAF, EGFR and KRAS mutational analysis | Q34903217 |
| | Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk | Q35606782 |
| | Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation | Q36100353 |
| | Systematic Evaluation of Sanger Validation of Next-Generation Sequencing Variants | Q36931649 |
| | Carrier testing for severe childhood recessive diseases by next-generation sequencing | Q37086582 |
| | Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing | Q37125995 |
| | Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care | Q37257098 |
| | Assuring the quality of next-generation sequencing in clinical laboratory practice | Q37306277 |
| | Clinical exome sequencing: results from 2819 samples reflecting 1000 families. | Q37599237 |
| | Rare-disease genetics in the era of next-generation sequencing: discovery to translation | Q38133704 |
| | Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease | Q38865047 |
| | Exploiting the potential of next-generation sequencing in genomic medicine | Q38940833 |
| | Sanger Confirmation Is Required to Achieve Optimal Sensitivity and Specificity in Next-Generation Sequencing Panel Testing | Q39308521 |
| | Confirming Variants in Next-Generation Sequencing Panel Testing by Sanger Sequencing | Q40954582 |
| | Guidelines for diagnostic next-generation sequencing | Q41118484 |
| | Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory. | Q42718507 |
| | Sequence Capture and Next-Generation Resequencing of Multiple Tagged Nucleic Acid Samples for Mutation Screening of Urea Cycle Disorders | Q43846373 |
| | Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics | Q45736566 |
| | College of American Pathologists' laboratory standards for next-generation sequencing clinical tests | Q46126528 |
| | Performance evaluation of the next-generation sequencing approach for molecular diagnosis of hereditary hearing loss | Q50357419 |
| P433 | issue | 1 | |
| P304 | page(s) | 53-61 | |
| P577 | publication date | 2018-08-13 | |
| P1433 | published in | Genetics in Medicine | Q15765508 |
| P1476 | title | Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population | |
| P478 | volume | 21 | |