Editors: Syeda Marriam Bakhtiar, Erum Dilshad

Omics Technologies for Clinical Diagnosis and Gene Therapy: Medical Applications in Human Genetics

eBook: US $79 Special Offer (PDF + Printed Copy): US $126
Printed Copy: US $87
Library License: US $316
ISBN: 978-981-5079-52-4 (Print)
ISBN: 978-981-5079-51-7 (Online)
Year of Publication: 2022
DOI: 10.2174/97898150795171220101


Genetic disorders have been the focus of scientists for a long time. The emergence of next-generation sequencing techniques has ushered a new era in genetics and several developments have occurred in human genetics. The scientific perspective has also been widened with omics technologies that allow researchers to analyze genetic sequences and their expression products. An integrated approach is being used not only for diagnosis but also for disease management and therapeutic purposes.

This book highlights emerging areas of omics technology and its application in the diagnosis and management of human genetic disorders. The book covers three areas of research and implementation:

  • - Diagnosis (covering conventional strategies to next-generation platforms). This section focuses on the role of in silico analysis, databases and multi-omics of single-cell which will help in designing better management strategies.
  • - Disease Management and therapeutic interventions. This section starts with genetic counselling and progresses to more specific techniques such as pharmacogenomics and personalized medicine, gene editing techniques and their applications in gene therapies and regenerative medicine.
  • - Case studies. This section discusses the applications and success of all the above-mentioned strategies on selected human disorders.

This book serves as a handy reference for students and academics studying advanced omics techniques in biochemistry and molecular genetics as part of courses in life sciences, pharmacology and medicine.


Students and academics studying advanced omics techniques in biochemistry and molecular genetics as part of courses in life sciences, pharmacology and medicine.


- Pp. 1
Shahid Mahmood Baig
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- Pp. ii
Syeda Marriam Bakhtiar, Erum Dilshad
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List of Contributors

- Pp. iii-vi (4)

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Next-Generation Technologies for Rare Inherited Disorders

- Pp. 1-13 (13)
Hira Kazmi, Muhammad Ilyas*
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Genetic Testing for Rare Genetic Disorders

- Pp. 14-28 (15)
Muhammad Tariq*, Naveed Altaf Malik, Ilyas Ahmad, Syeda Seema Waseem, Shahid Mahmood Baig
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Preimplantation, Prenatal, and Postnatal Diagnosis

- Pp. 29-44 (16)
Sadia Nawaz*, Humna Masood
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Genetic Counseling in Inherited Disorders

- Pp. 45-59 (15)
Shumaila Zulfiqar, Muhammad Tariq*, Naveed Altaf Malik, Ayaz Khan, Shafaq Ramzan, Maria Iqbal, Iram Anjum, Shahid Mahmood Baig
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Genome-Wide Association Studies (GWAS)

- Pp. 60-78 (19)
Hafiza Noor Ul Ayan, Muhammad Tariq*
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Regenerative Medicine

- Pp. 79-92 (14)
Hajra Qayyum*, Syeda Marriam Bakhtiar
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Emerging OMICS and Genetic Disease

- Pp. 93-113 (21)
Muhammad Jawad Hassan*, Muhammad Faheem, Sabba Mehmood
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Integrated Bioinformatics and Computational Biology Approaches: Applications in Diagnosis and Therapeutics

- Pp. 114-136 (23)
Fatima Shahid, Shifa Tariq Ashraf, Hayeqa Shahwar Awan, Amina Basheer, Amjad Ali*
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Multi-omics Data Integration: Applications in Systems Genomics

- Pp. 137-155 (19)
Anam Naz*, Ammara Siddique, Aqsa Ikram, Bisma Rauff, Huma Tariq, Sajjad Ahmed
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Single Cell Omics

- Pp. 156-173 (18)
Erum Dilshad*, Amna Naheed Khan, Iqra Bashir, Muhammad Maaz, Maria Shabbir, Marriam Bakhtiar
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- Pp. 174-189 (16)
Sahar Fazal*, Rabbiah Manzoor Malik, Shumaila Azam, Attiya Kanwal, Muhammad Saad Khan, Narjis Khatoon, Muneeba Ishtiaq, Sana Elahi, Fakhra Nazir
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Biomaterials in Gene Therapy for Soft and Hard Tissues

- Pp. 190-213 (24)
Sarmad Mehmood, Sajjad Haider, Muhammad Naeem, Raees Khan, Muhammad Faheem, Bushra Bano, Syeda Marriam Bakhtiar, Atif Ali Khan Khalil, Fazli Subhan, Syed Babar Jamal, Adnan Haider*
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Induced Pluripotent Stem Cells

- Pp. 214-225 (12)
Ambrin Fatima*, Uzma Abdullah, Zafar Ali
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- Pp. 226-241 (16)
Mahnoor Asif, Sadia Nawaz*, Muhammad Tariq
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Metabolic Syndromes

- Pp. 242-268 (27)
Mahnoor Ejaz*, Areena Suhail Khan, Faiza Naseer, Alvina Gul
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Intellectual Disabilities

- Pp. 269-282 (14)
Zafar Ali*, Uzma Abdullah, Ambrin Fatima
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Primary Microcephaly and Schizophrenia: Genetics, Diagnostics and Current Therapeutics

- Pp. 283-300 (18)
Iram Anjum*, Aysha Saeed, Komal Aslam, Bibi Nazia Murtaza, Shahid Mahmood Baig
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Subject Index

- Pp. 301-314 (14)
Syeda Marriam Bakhtiar, Erum Dilshad
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