CCEPAS: the creation and validation of a fast and sensitive clinical whole exome analysis pipeline based on gene and variant ranking
Clinical sequencing: From raw data to diagnosis with lifetime value - Caspar - 2018 - Clinical Genetics - Wiley Online Library
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases – topic of research paper in Clinical medicine. Download scholarly article PDF and read for free on CyberLeninka open science
Toward Clinical Implementation of Next-Generation Sequencing-Based Genetic Testing in Rare Diseases: Where Are We?: Trends in Genetics
Toward Clinical Implementation of Next-Generation Sequencing-Based Genetic Testing in Rare Diseases: Where Are We?: Trends in Genetics
Clinical and Experimental Pediatrics
Exome Sequencing Overview For Contract Services | Ambry Genetics
Recommendations for next generation sequencing data reanalysis of unsolved cases with suspected Mendelian disorders: A systematic review and meta-analysis - Genetics in Medicine
Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings - The Lancet Respiratory Medicine
Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing | European Journal of Human Genetics
Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing - Genetics in Medicine
Diagnostic and clinical utility of whole genome sequencing in a cohort of undiagnosed Chinese families with rare diseases | Scientific Reports
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders | NEJM
Genetic diagnosis of Mendelian disorders via RNA sequencing | Nature Communications
Suggested steps in filtering of genomic variants for the identification... | Download Scientific Diagram
Diagnostics | Free Full-Text | Facilitations and Hurdles of Genetic Testing in Neuromuscular Disorders | HTML
Exome Sequencing as Molecular Diagnostic Tool of Mendelian Diseases - ppt video online download
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders | NEJM
PDF) Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
Exome sequencing - Wikipedia
Exome-Based Rare-Variant Analyses in CKD | American Society of Nephrology
Clinical and Experimental Pediatrics
