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Exome sequencing

Edited by: Dr. Chee Seng Ku, Prof George Patrinos

The advent of NGS technologies and sequence enrichment methods to capture all the protein-coding regions have made exome-sequencing approach technically feasible and cost effective. This was demonstrated in the first publication in 2009 utilising the approach to identify causative variants for Freeman-Sheldon syndrome. This was then followed by an exponential rate of publications employing exome-sequencing to decipher the genetic basis of Mendelian disorders with unknown genetic etiologies.

With this new thematic series in Human Genomics, we recognize the importance of this rapidly emerging field of applying exome-sequencing to study the genetic basis of human diseases and its discoveries.

Collection published: 1 January 2015

Last updated: 19 July 2015

  1. Esophageal adenocarcinoma (EA) is among the leading causes of cancer mortality, especially in developed countries. A high level of somatic copy number alterations (CNAs) accumulates over the decades in the pro...

    Authors: Xiaoyu Wang, Xiaohong Li, Yichen Cheng, Xin Sun, Xibin Sun, Steve Self, Charles Kooperberg and James Y. Dai
    Citation: Human Genomics 2015 9:22
    Content type: Primary research Published on:

  2. Conditions associated with sudden cardiac arrest/death (SCA/D) in youth often have a genetic etiology. While SCA/D is uncommon, a pro-active family screening approach may identify these inherited structural an...

    Authors: Mindy H. Li, Jenica L. Abrudan, Matthew C. Dulik, Ariella Sasson, Joshua Brunton, Vijayakumar Jayaraman, Noreen Dugan, Danielle Haley, Ramakrishnan Rajagopalan, Sawona Biswas, Mahdi Sarmady, Elizabeth T. DeChene, Matthew A. Deardorff, Alisha Wilkens, Sarah E. Noon, Maria I. Scarano…
    Citation: Human Genomics 2015 9:15
    Content type: Primary research Published on:

  4. The translational pipeline for genomic medicine has been well defined. However, as with any rapidly changing technology, innovations are difficult to predict leading to the potential to disrupt anticipated tra...

    Authors: Marc S. Williams
    Citation: Human Genomics 2015 9:9
    Content type: Opinion article Published on:

  5. Osteogenesis imperfecta (OI) comprises a clinically and genetically heterogeneous group of connective tissue disorders, characterized by low bone mass, increased bone fragility, and blue-gray eye sclera. OI of...

    Authors: Katre Maasalu, Tiit Nikopensius, Sulev Kõks, Margit Nõukas, Mart Kals, Ele Prans, Lidiia Zhytnik, Andres Metspalu and Aare Märtson
    Citation: Human Genomics 2015 9:6
    Content type: Primary research Published on:

  6. Osteosarcoma (OS) is a prevalent primary malignant bone tumour with unknown etiology. These highly metastasizing tumours are among the most frequent causes of cancer-related deaths. Thus, there is an urgent ne...

    Authors: Ene Reimann, Sulev Kõks, Xuan Dung Ho, Katre Maasalu and Aare Märtson
    Citation: Human Genomics 2014 8:20
    Content type: Primary research Published on:

  7. Inherited cataract is a clinically important and genetically heterogeneous cause of visual impairment. Typically, it presents at an early age with or without other ocular/systemic signs and lacks clear phenoty...

    Authors: Donna S Mackay, Thomas M Bennett, Susan M Culican and Alan Shiels
    Citation: Human Genomics 2014 8:19
    Content type: Primary research Published on: