Genetic Clinics
GeNeDit
July - September 2023 | Vol 16 | Issue 3 | Page No 01
The Long and Short of NGS
Next-generation sequencing (NGS) has revolutionized the field of genetic diagnostics over the last 10-15 years. NGS technologies have enabled us to look at the DNA at base pair level of resolution at genome wide scale as opposed to the very low-resolution techniques like karyotyping wherein the smallest...
Dr Ashwin Dalal
PhotoQuiz-61
July - September 2023 | Vol 16 | Issue 3 | Coverpage
This fetus with antenatally detected anomalies was referred for autopsy evaluation. Identify the condition...
Dr Shubha R Phadke
Clinical Vignette
July - September 2024 | Vol 17 | Issue 3 | Page No 03
GJC2 Variant Identification in Siblings with Pelizaeus-Merzbacher-Like Disease: Illustrative Report Highlighting the Limitations of Exome Sequencing
Whole-exome sequencing (WES) has revolutionized genetic diagnosis and has become a powerful tool for identifying disease-causing variants. However, WES has limitations such as uneven read coverage, which can result in multiple low-coverage regions in the exome. Here, we report two affected siblings with....
T Pragna Lakshmi1 Neelam Saini2, Prajnya Ranganath2, Ashwin Dalal
GeNeViSTA
July - September 2023 | Vol 16 | Issue 3 | Page No 08
Therapeutic Modalities for Hereditary Angioedema: An Update
Hereditary angioedema is an autosomal dominant disorder presenting as intermittent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction. Most of the cases are caused by pathogenic variants in the SERPING1 gene. Other genes contribute to a small number of cases...
Rani Manisha, Shubha R Phadke
GeNeViSTA
July - September 2023 | Vol 16 | Issue 3 | Page No 14
Next Generation Cytogenetics - Optical Genome Mapping
Optical genome mapping (OGM) is a state-of-the-art technology that is being increasingly adopted by genomic laboratories across the world to detect structural variations (SVs). Conventional cytogenetic/ molecular genetic technologies used to detect SVs like insertions, deletions, inversions, duplications, and...
Sofia Banu, Kanakavalli M K, Chandreswara Raju Kataru, Divya Tej Sowpati, Karthik Bharadwaj Tallapaka
GeNeXprESS
July - September 2023 | Vol 16 | Issue 3 | Page No 19
Utility of Long-read Sequencing in Human Genetic Disorders
Disease-associated structural variants (SV) often have breakpoints within the gene or in its vicinity. The accurate detection of breakpoints helps in identifying the molecular mechanism and the risks involved with the disrupted genes. The detection of SVs is mostly done by...
Usha R Dutta
Book Review
July - September 2023 | Vol 16 | Issue 3 | Page No 03
Book Review
Review on: Diagnosis and Management of Hereditary Cancer - Tabular-Based Clinical and Genetic Aspects. By John W Henson, MD and Robert G Resta, MS. Academic Press, Elsevier, 2021..
Dr Ishwar C Verma
