Precision Medicine in Practice: Molecular Diagnosis Enabling Precision Therapies, An Issue of the Clinics in Laboratory Medicine

1st Edition, Volume 40-2 - June 4, 2020
Editor: Ryan J. Schmidt
Language: English
Hardback ISBN:
9 7 8 - 0 - 3 2 3 - 7 5 8 4 5 - 1
eBook ISBN:
9 7 8 - 0 - 3 2 3 - 7 5 8 4 6 - 8

This issue of Clinics in Laboratory Medicine will cover Precision Medicine in Practice: Molecular Diagnosis Enabling Precision Therapies. Curated by Dr. Ryan J. Schmidt, this issue… Read more

Precision Medicine in Practice: Molecular Diagnosis Enabling Precision Therapies, An Issue of the Clinics in Laboratory Medicine

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This issue of Clinics in Laboratory Medicine will cover Precision Medicine in Practice: Molecular Diagnosis Enabling Precision Therapies. Curated by Dr. Ryan J. Schmidt, this issue is one of four selected each year by the series Consulting Editor, Milenko Tanasijevic. The volume will include articles on: Features of a Comprehensive Precision Medicine Program for Constitutional Genetic Disorders, Establishing a Precision Medicine Center of Excellence for Rare Disease, High-throughput DNA Sequencing for Rare Disease Diagnosis, Enhancing Diagnosis through RNA Sequencing, Interpretation of Rare Genetic Variants, Clinical Bioinformatics, Precision Therapies for Retinal Dystrophy, Precision Therapies for Muscular Dystrophy, Therapeutic Gene Editing, High Throughput Functional Studies of Genetic Variants, and Patient-specific Disease Models.

Cover image
Title page
Table of Contents
Copyright
Contributors
Clinics in Laboratory Medicine
Enhancing Diagnosis Through RNA Sequencing
Key points
Introduction
RNA sequencing methodology
Gene expression
Gene splicing
Allele-specific expression
Variant of uncertain significance resolution
Limitations
Summary
The Clinical Application of RNA Sequencing in Genetic Diagnosis of Mendelian Disorders
Key points
Introduction
The challenge of variant calling and prioritization
The transcriptome and RNA-seq
RNA-seq methodology
Interpretation of RNA-seq
Systematic analysis of RNA-seq in Mendelian disorder diagnosis
RNA-seq in undiagnosed mitochondrial disorders
RNA-seq in undiagnosed primary muscle disorders
The key advantages of RNA-seq
Challenges in RNA-seq approaches
Summary
The Evolution of Constitutional Sequence Variant Interpretation
Key points
Introduction
Significance
A brief history of sequence variant interpretation
Lines of evidence used in sequence variant interpretation
Present relevance and future avenues to consider or to investigate
Variant curation outcomes using qualitative and quantitative approaches
Summary
Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease
Key points
Clinical bioinformatics and precision medicine
Mitochondrial diseases and sequencing-based genetic diagnosis
Mitochondrial DNA databases and mitochondrial disease databases
In silico prediction of mitochondrial DNA variant effects
Heteroplasmy and the threshold effect of mitochondrial DNA variants
Haplogroup and phylogeny: implications in pathogenicity interpretation
Specifications of the American College of Medical Genetics/Association of Molecular Pathology standards and guidelines for mitochondrial DNA variant interpretation
MSeqDR for mitochondrial DNA analysis and mitochondrial disease diagnosis
Bioinformatics in Clinical Genomic Sequencing
Key points
Introduction
Significance
Future directions
Summary
Precision Therapy for Inherited Retinal Disease: At the Forefront of Genomic Medicine
Key points
Introduction
Molecular diagnostic testing for retinal dystrophies
Gene therapy for retinal dystrophies
Novel gene therapy approaches
The future of the field
Therapeutic Gene Editing with CRISPR: A Laboratory Medicine Perspective
Key points
The current state of therapeutic gene editing
Crispr gene editing
The laboratory medicine perspective
Regulatory considerations
Summary
The Future of Clinical Diagnosis: Moving Functional Genomics Approaches to the Bedside
Key points
Introduction
Significance
Current clinical variant interpretation approaches
Whole-genome sequencing
Epigenomics and prediction of variants impact
RNA-seq analysis and prediction of variants impact
Application of variant functional assays in metabolomics
High-throughput functional assays and deep learning models
Multi-omic analysis
Summary