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Volume 17 | Issue 3 | July - September 2024 |
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GeNeDit |
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| July - September 2024 | Vol 17 | Issue 3 | Page No 01 | |||
| Importance of Artificial Intelligence in Medical Genetics | |||
| Artificial intelligence (AI) is making all areas of medicine swift, sharp, speedy and hence, effective. AI-based tools can do many things which human intelligence cannot. However, AI is not new for medical geneticists. AI-based next-generation sequencing (NGS) data analysis and variant interpretation has made...
Dr. Shubha Phadke |
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| PhotoQuiz-65 | ||||
| July - September 2024 | Vol 17 | Issue 3 | Coverpage | ||||
| This two-year-old boy was brought for evaluation of short lower limbs and cleft palate. Identify the condition...
Dr Shubha Phadke |
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GeNeViSTA |
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| July - September 2024 | Vol 17 | Issue 3 | Page No 03 | ||||||
| Mosaicism in Clinical Genetics: Counselling Challenges and Diagnostic Dilemmas | ||||||
| Mosaicism involves the presence of more than one genetically distinct cell line within a single organism, contributing to a range of pathologies from chromosomal disorders to various cancers. In clinical practice, mosaicism presents significant challenges, from suspicion to... Haseena Sait |
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GeNeViSTA |
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| July - September 2024 | Vol 17 | Issue 3 | Page No 15 | ||||||
| Spliceosome Variants: Insights into Disease Pathology, Current Detection Techniques, and Clinical Implications in Genetic Diseases | ||||||
| The mechanism involved in pre-mRNA splicing represents a vital stage in eukaryotic gene expression, ensuring the precise excision of introns and the joining of exons to yield mature mRNA transcripts. Deviations in this process, often instigated by spliceosome variants, can result in... Prince Jacob1#, Keerthana Kumari S1, Rachanashree HN1, Akila Prashant1,2, Siddaramappa J Patil3# |
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GeNeFocus |
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| July - September 2024 | Vol 17 | Issue 3 | Page No 25 | ||||||
| A Day in the Life of a Geneticist | ||||||
| As I board my metro train to go home after a seemingly heavy day, I start reflecting on the day's proceedings. It started with a message on WhatsApp- with news of the death of a baby whom I had seen a few weeks ago. The baby had come from another country, with a hope for... Sunita Bijarnia-Mahay |
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GeNeXprESS |
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| July - September 2024 | Vol 17 | Issue 3 | Page No 28 | |||||
| Applications of Artificial Intelligence (AI) in Medical Genetics: From Patient Counseling to Training of Students. | |||||
| Human Phenotype Ontology (HPO)-based phenotypic descriptions for whole genome sequencing (WGS) in the neonatal intensive care unit (NICU) is an established practice. It is done manually and at one or two isolated points of time. Constant vigilance for changes in laboratory... Pooja Motwani |
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HearToHearTalk |
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| The Prenatal Diagnosis after Twenty-Four Weeks of Gestation: The Question is What Next? | |||||
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Prenatal diagnosis is not only a technically advanced process but needs equally competent counselling expertise. At present very few prenatally diagnosed disorders can be treated with a complete normal outcome. Hence, termination is the only option to prevent the financia... Shubha Phadke |
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Announcements |
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| Announcements | |||||
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1. 9th Annual Conference of the SIAMG 2. 21st ICMR Course on Medical Genetics & Genetic Counseling 3. IAMG 2024 Conference - Preconference Workshop |
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