E-mail ID : info@iamg.in

Online Submission

Click Here For Online Submission
Instructions for authors

Genetic Clinics

Editorial board

Get Our Newsletter


Send Your Feedback

Feedback Form

About Us



January-March 2015 | Vol. 8 | Issue 1 | Page No 11-12
Importance of phenotype in exome variant analysis
Dhanya Lakshmi N and Shubha R Phadke
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow
Address for Correspondence Email: shubharaophadke@gmail.com
Mutation detection is the gold standard for the diagnosis of monogenic disorders. The advent of next generation sequencing strategies has revolutionized diagnostics in genetics. The whole genome and whole exome can now be sequenced with ease and at an affordable cost. For the disorders caused by large sized genes or with etiological heterogeneity, this is a great boon. Enormous data is generated which needs expertise for correct interpretation. The challenge is to correctly identify the causative sequence variation from the thousands of variations identified in each individual.
HTML Full Text  Download PDF