Exome Sequence Analysis and Interpretation: Handbook for Clinicians

Vinod Scaria, Sridhar Sivasubbu

Research in Genomics, Feb 11, 2015 - Computers - 124 pages

A concise handbook on exome sequencing for clinicians and clinical geneticists. 

What people are saying

User Review -

The idea of helping clinicians learn the basics of exome sequencing in an evocative style using a clinical case as a fulcrum around which the narrative is adeptly constructed, is truly admirable.The various terminologies used gradually became less threatening.The reader is gently persuaded to learn more while not being made to feel oppressed.
The clarity and succinctness are also worthy of mention.Truly, a must read for all clinicians in this day and age!
Dr. Geeta Govindaraj,
Additional Professor,
Department of Pediatrics,
Government Medical College, Kozhikode, Kerala 

User Review -

The book was undoubtedly informative and the narrative impressive. As a Post Graduate student in Biochemistry, I have been trying to read NGS from various books and articles, but could not understand the technicalities entirely. After reading it from here, it's been much easier to grasp the concept, especially with the easy-to-follow diagrams.The Exome sequencing portion was an interesting read too.The unique element of this compilation is bringing together basic concepts and cutting edge technology successfully and in a manner that is easy to understand.This book is indeed a faithful handbook for Clinicians and it has certainly motivated me to learn more.
Dr Anu R I
PG Student
Dept of Biochemistry
VMMC & Safdarjung Hospital
New Delhi 

Contents

• Contents: 11
• The human genome project and how it changed everything: 19
• Genome variations and how they makes us different?: 29
• A brief introduction to next generation sequencing: 37
• When you could sequence your own genomes: 43
• So what if we could sequence just the protein coding genome?: 49
• When should you do exome sequencing?: 55
• When should you probably not do exome sequencing?: 61
• Educating the patient and getting an informed consent: 71
• Points to note when you outsource exome sequencing: 81
• How good is the exome sequencing data?: 91
• Dont forget the validation: 103
• The last word: 113

About the author

Sridhar Sivasubbu

Sridhar Sivasubbu’s laboratory is interested in exploiting the advantages of zebrafish to dissect molecular mechanisms of gene function, regulation and genome organization in vertebrates. Research activities in his lab include deciphering non-coding RNA mediated regulation of blood and blood vessel development and development of zebrafish models for application in personalized and precision medicine in humans. His group is actively involved in mapping the genome and transcriptome of the wild zebrafish. His group was also responsible for the whole genome sequencing of human samples from India and other Southeast Asian countries.

Sridhar did his PhD from M.S University, Tirunelveli, India and postdoctoral research at the Center for Cellular and Molecular Biology, India and the University of Minnesota, USA. He is a faculty at the CSIR-Institute of Genomics & Integrative Biology (CSIR-IGIB) since 2006. Sridhar also served as the CEO of The Center for Genomic Application, a Public-Private partnership company established by CSIR-IGIB for enabling research in the field of Genomics and Proteomics, where he spearheaded the application of next generation sequencing technology for commercial projects

Vinod Scaria

Vinod Scaria is a clinician turned computational biologist. His laboratory is interested in understanding the function, organization and regulation of vertebrate genome, and how genomic variations could potentially impact them. He is also involved in creating novel methods and resources for analysis and annotation of genomes and understanding the functional impact of genomic variations. He has been part of collaborative genomics projects aimed at understanding the Asian Genome diversity. He has also been part of the whole genome sequencing and analysis projects including the Indian, Sri-Lankan and Malaysian genome projects and is also a member of the HUGO Pan-Asian Population Genomics Initiative task-force. He has adopted novel and creative strategies, such as the use of social media, and the participation of a large number of undergraduate students in collaborative projects to accelerate genome annotation and co-creation resources for genome annotation.

Vinod did his undergraduate medical education from Calicut Medical College, University of Calicut and PhD in Computational biology from University of Pune. Vinod has over 80 peer publications in international peer-reviewed journals and two book-chapters to his credit. He is also in the editorial board of PLoS ONE, PeerJ, Journal of Translational Medicine and Journal of Orthopaedics (Elsevier). He is also recipient of the CSIR Young Scientist Award for Biological Sciences in 2012. He was a member in the senate of the Academy of Scientific and Innovative Research (AcSIR)

Bibliographic information

• Title: Exome Sequence Analysis and Interpretation: Handbook for Clinicians; GUaRDIAN Education Series on Next Generation Sequencing in Clinics
• Authors: Vinod Scaria, Sridhar Sivasubbu
• Publisher: Research in Genomics, 2015
• Length: 124 pages
• Subjects: Computers / Bioinformatics; Health & Fitness / Diseases / Genetic; Medical / Diagnosis; Medical / Genetics; Science / Life Sciences / Genetics & Genomics; Science / Life Sciences / Molecular Biology