Clinical Genomics 1st Edition

This book comes from a department that has had a leading role in the clinical implementation of next-generation sequencing (NGS) and provides a great overview of the subject matter. The contributors focus on the technology and informatics surrounding NGS, including sequencing chemistries; target enrichment methods; bioinformatic approaches to calling SNVs, indels, CNVs, and translocations; advantages and disadvantages of targeted, exome, and whole genome sequencing approaches; and regulatory issues surrounding the clinical use of NGS. It also provides a brief overview of technologies not yet widely used in the clinic, including RNA-seq and long-read sequencing. A future edition might benefit from chapters on liquid biopsies and the use of genomic information to guide immunotherapy.I'd recommend this book to anyone interested in better understanding next-generation sequencing, including life-sciences PhD students, laboratory-based clinicians, and entrepreneurs working in molecular diagnostics. It is very clearly and logically written, and you'll walk away with a deeper grasp of the concepts underlying clinical genomics. I read this book shortly after reading Genomic Applications in Pathology, which focuses more on the findings and applications of genomics to specific cancers, inherited disorders, and infectious disease processes. The two books were released around the same time, are very well referenced, complement each other nicely.In sum, Clinical Genomics provides a fantastic overview of the subject matter, and I highly recommend it.

lots of up to date info, the authors did really a great job including comprehensive info on methods and databases. for example ClinVar, GnomAD etc is well explained. Great for beginners and advanced genetecisits.

Best in Clinical NGS area

Clinical Genomics offers a very comprehensive review of the utilization of Next Generation Sequencing for advanced molecular profiling of cancer and other disease. While NGS is revolutionizing how precision medicine is and will be delivered to improve human health, there are multiple levels of complexity that must be contemplated and addressed in order for NGS to be deployed effectively and responsibly. Clinical Genomics should be considered required reading for any individual or laboratory interested in the clinical implementation of NGS.

It is a great introduction to Clinical Genomics. Reviews the key concepts needed to understand the science and bioinformatics behind genomic analysis with special attention to how it should be handled in a clinical environment. It does NOT go into many specifics about particular variations or diseases which may be what some people are looking for.

i bought chapters of this book in the publisher site. As i was interested in a particular information about NGS. the chapter was clear, precise and very nicely explained.i do recommend this book for geneticist, scientist and physicians that want to know more about the technology behind clinical genomics.

I bought this book at the May 2015 meeting of the Institute for Functional Medicine in Austin, TX. As a clinician, I was looking for something to help me educate my patients with specific SNPs. I have a patient with homozygous COMT mutation. This book is of no use. I don't know why it is called "Clinical Genomics." It reads like a book written by geneticists for geneticists. There is no mention of COMT, GST, NAT, MTHFR or any of the common mutations that I would test for, and their clinical implications. This is not a good book for practicing clinicians. Why was it being sold at an IFM meeting if it is not designed for our use? It is really worth zero stars.

some chapters are ok, some are just re-print of other articles. A lot of general wording without going into technical details which laboratory geneticists may need.