Page 75 - Annual report 2021-22

Annual Report 2021-22 |

The DIID-NGS project was initiated in April 2018, following which the recruitment phase of the project
was done at AIIMS. Blood samples of a total of 44 families were received at CSIR-IGIB till January 2022.
These consisted of 109 blood samples (Affected + Unaffected). The total number of affected samples
were 48 members across 29 families. These families included 15 families which have multiple
members of the family affected while 14 families had only one affected member.
58
CMA bioinformatic analysis was next performed using a comprehensive compendium of clinically
relevant copy number variants from literature and other clinical data sources that were created in the
lab. The familial and proband cases were identified in all 29 families and in total, 48 affected cases
were prioritized for WES library preparation during which in the first phase, 38 cases were taken and
sequenced and analyzed.
Under INSACOG – multi-institutional collaboration, Vinod Scaria was involved in ascertaining the
status of new variants of SARS-CoV-2 in the country. The genomic analysis was performed for all the
sequenced 17,000 SARS-CoV-2 samples received from the assigned collection centers; the sequencing
revealed that several variants of concern/interest were circulating in the population during the period
of the analysis. Analysis also helped establish the shift in the SARS CoV2 lineage in India. Genome
surveillance also helped identify the emergence of sub-lineages of Delta and Omicron. The genome
sequencing of SARS CoV2 virus enabled the public health policy decisions at both central and state
government levels in India. Whole genome sequencing of SARS-CoV-2 samples for genomic
surveillance would be continued as required by the INSACOG consortia.

Vinod Scaria has been closely working with Mohammed Faruq on the GOMED programme that entails
pan-India service for genetic disorders diagnosis to more than 100+ hospitals. GOMED has been
offering quality services, discovery and possible tech-transfers to the commercial entities. Since it
started in 2015, the testing has been extended to the 10000+ patients and for 300+ single genes
disease testing. Extensive research has been done using NGS. A novel disorder of bone development
has been identified. Capillary sequencing-based genetic tests encompassing a variety of disease
conditions and specialties including Movement Disorders, Motor Neuron Disease, Familial Stroke,
Mitochondrial Disorders, Developmental and Inborn error of metabolism, Leukodystrophies, and
Ophthalmological diseases.

One important outcome of GOMED has been the generation of resources like building up of a cohort
of clinical and genetically investigated 11,000 patients and a database of allele frequency of clinical
markers (ClinIndb: http://clinindb.igib.res.in) and identification of novel gene markers for rare
disorders.