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Volume 15 | Issue 2 | April to June 2022 |
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GeNeDit |
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| April to June 2022| Vol 15 | Issue 2 | Page No 01 | |||
| NGS - From the Womb to the Tomb | |||
| Deoxyribonucleic acid (DNA) molecules inside each nucleus of a living cell are the musical instruments of the orchestra of life. The loss of any key of an accordion or breaking of a string of a sitar can disturb the melody of life. Now we have the technology to detect defects in any of the 3 billion keys as easily as looking at the facial... Dr. Shubha Phadke |
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Clinical Vignette |
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| April to June 2022| Vol 15 | Issue 2 | Page No 02-05 | ||||||||
| Carrier Screening in the Current Era: A Report Depicting its Utility and Challenges | ||||||||
| Reproductive carrier screening is a genetic test which is offered to healthy individuals or couples who either have a history of a previous child suspected with a genetic condition or are planning a pregnancy. It is carried out to identify...
Aashita Takkar, Veronica Arora, Swasti Pal, Renu Saxena |
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Clinical Vignette |
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| April to June 2022| Vol 15 | Issue 2 | Page No 06-10 | ||||||
| An A Novel Loss-of-Function Variant in SETBP1 Causing Autosomal Dominant Mental Retardation 29 in an Asian Indian Male Child | ||||||
| Heterozygous gain-of-function variants in the SETBP1 gene are known to cause Schinzel-Giedion syndrome, a multiple malformation condition with typical facial dysmorphism. Heterozygous, loss-of-function variants in the same gene have... Asodu Sandeep Sarma1, Shivangi Wagh1, Ashwin Dalal1, Prajnya Ranganath1,2 |
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GeNeViSTA |
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| April to June 2022| Vol 15 | Issue 2 | Page No 11-18 | ||||||
| Low-Pass Genome Sequencing: A Good Option for Detecting Copy Number Variations | ||||||
| Low-pass genome sequencing (LPGS) is a technique to detect copy number variants and map their breakpoints by using the technology of next-generation sequencing (NGS). Cytogenetic microarray (CMA) has a high resolution but is.. Somya Srivastava, Shubha R Phadke |
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GeNeXprESS |
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| April to June 2022| Vol 15 | Issue 2 | Page No 19-20 | |||||
| Advancements in Genomic Diagnoses | |||||
| The etiological diagnosis of sudden death is important for cascade testing of the relatives and preventive actions in individuals identified to be susceptible to sudden death. Molecular autopsy by next-generation sequencing (NGS) of... Arya Shambhavi |
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PhotoQuiz |
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| April to June 2022| Vol 15 | Issue 2 | Page No 21 | ||||
| PhotoQuiz-56 | ||||
| This 4 years-old male child was referred for evaluation of short stature and sensorineural hearing loss. On examination he was found...
Dr Shubha Phadke |
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