List of Selected Abstracts for Poster Presentation

Abstract ID

Presenting Author

Abstract Title

248

Krithika Subramanian

GenomeIndia: Cataloguing the genetic variations in Indians

245

Pavan Satyam

Genetic spectrum of inherited neuropathies: a single centre experience

244

Veena Kumari Davarasingi

Congenital Myasthenic Syndrome with Sotos syndrome

240

Sanjhi Paliwal

Mitochondrial complex I deficiency, nuclear type 5: Analysis of NDUFS1 gene to explore its genetic variants and related phenotype

239

Bhumandeep Kour

Genome to Phenome Pathway Functional Annotation Using Whole Exome Sequencing of Prostate Cancer Specific to India

238

Mehak Chopra

Unraveling the genetic determinants of aortic distensibility and their impact on the cellular composition of the aorta

237

Deepika Jena

KaryoSeq- an innovative whole genome sequencing to diagnose prenatal and newborn conditions.

235

Vasant Dhumal

Cytogenetic analysis of 714 cases of Down syndrome and the importance of genetic counseling.

234

Ankit Dhakad

DENND5A related DEE49: a clinical mimic of Aicardi Goutieres syndrome.

233

Afreen Khan

Re-classification of BRCA VUS variants in cancer patients – A Boon or Bane?

231

Avinash Pradhan

Preimplantation Genetic Testing for Monogenic Disorders (PGT-M): An approach by SNP Array Based Assay

230

Jyoti Maddhesiya

Functional analysis of novel BMPs variants in isolated congenital heart disease

229

Divya Bhanu

Optical Genome Mapping in Structural Variant Identification

228

Thenral Geetha

Whole exome with enhanced coverage (ExomeMAX) of Disease causing Genes

227

Rushika Patel

A Comparative Study of deep learning and Machine learning models for Predicting Cancer-Associated T Cell Receptors

226

Charu Bahl

Molecular profiling of soft-tissue sarcomas using Next Generation Sequencing for definitive diagnosis

224

Manjunath V

Large Region of Homozygous (ROH) Identified in Indian Patients with Autosomal Recessive Limb-Girdle Muscular Dystrophy with p.Thr182Pro Variant in SGCB Gene

222

Rashmi Dongerdiye

Molecular characterization of unexplained cases of congenital anaemia using next-generation sequencing panel

221

Ashutosh Srivastava

Exploring molecular mechanisms of FSHD pathology by weighted gene co-expression network analysis

220

Niti Sureka

HPV DNA Genotyping by Real time PCR and its Surrogate marker p16 analysis through Immunohistochemistry in cervical cancer: A tertiary care experience

219

Rashmi Rasalkar

Testing for unbalanced translocation in embryo biopsy samples: Selective transfer of embryos with normal karyotype

216

Jitendra Nayak

Comprehensive approach involving cfDNA and metabolites in embryo selection for ART treatment

211

Preksha Patel

Meta-Analysis of microbiota samples which helps in maintenance of Gut health

210

Vidhi Sambhvani

Central role of conventional Karyotyping amid advance genetic technology.

208

Kawaljit Matharoo

Association of PI3K (rs3730089), IRS-1 (rs1801278) and KCNJ11 (rs5219) with type 2 diabetes in three endogamous groups of North-West India (Punjab)

207

Arundhati Athalye

Importance of PGT-M in cases of VUS findings on whole exome sequencing

206

Kalaiyarasi Kasirajan

Altered gene expression study of glutamate NMDA and AMPA encoded genes in autistic behavior caused by valproic acid model treated with polyherbal formulation.

199

Lokendra Rathod

Development and validation of SNP markers in relation to type 2 diabetes: A molecular epidemiology study in Central Indian population

197

Harsh Mistry

Role of microbiota in human fertility

196

Rahila Sardar

Decoding the genetic Insights of Neonatal-Onset of Primary Congenital Glaucoma through whole exome sequencing

195

Thota Kiran

Identification and determination of parent of origin for de novo mutations

194

Malini Nemalikanti

Profiling STR de novo mutations using trios from 1KGP.

193

Sushma Shah

Systems biology approach: identification of hub genes, signaling pathways, and molecular docking of col1a1 gene in cervical insufficiency

192

Shalini Rao

Duplication of one nucleotide at position c.1164 of the ATP9A gene causes a novel neurodevelopmental disorder involving progressive pes cavus, severe intellectual disability with behaviour problems

191

Gauri Krishna

The role and superiority of Whole Genome Sequencing in inherited neuropathies.

189

Krishnakumari Patel

Classifying muscular dystrophy: Clinical presentations as harbinger of diagnosis and management

188

Yashfeen Fatma

Significance of diagnostic biomarker (lyso-Gb1) in Gaucher disease of Indian population.

186

Anukrati Sharma

T-ReX:Tandem Repeat identification using XOR operations

185

Sandeep Charugulla

A deep learning-based risk assessment tool for predicting Parkinson’s disease genetic risk

181

Pooja Trivedi

Prakriti and genetic profiling in Duchenne/Becker Muscular Dystrophy: a first ayurgenomic appraisal towards personalized care.

180

Ghanchi Mohammadfesal

Network pharmacology and Molecular Docking of diet-derived phytonutrients to manage the collagen family gene expression in LGMD R12

177

Sharanya Kamaraju

Donor carrier screening as a crucial step in ART conception with donor gamete: A case of Spinal Muscular Atrophy (SMA)

174

Sofia Banu

Beyond short variants: Building a structural variation resource of Indian populations

172

Disha B

Whole-exome sequencing revealed a digenic variant in a patient with leigh syndrome

170

Rohan Peter Mathew

A unique confluence of genetic anomalies: coexisting gene mutation, pseudogene, and microdeletion.

168

Mantu Lal

Effect of Andrographolide on p21 and HER2 signalling in Colorectal Cancer cell lines

167

Urvi Budhbhatti

Novel High Throughput KASP genotyping for Sickle Cell Anaemia in Gujarat and Madhya Pradesh Tribes

166

Dikshita Bansode

A Novel Method of HPLC using DBS for Hemoglobin Variant Analysis and its Comparison Between Conventional High Performance Liquid Chromatography (HPLC) using Whole Blood Vs Dried Blood Spot (DBS) – HPLC

164

Vinit Gupta

ExoGenius: Transforming Rare Disease Care Through Comprehensive Exome Analysis

163

Sharda Shanbhag

Genetic diagnosis of haemophilia A families leading to a time-saving two tier strategy along with insights on de novo cases: decadal data

162

Pragna Lakshmi Thotakura

Reanalysis of Exome Sequencing: Fresh Insights into Unsolved Rare Diseases

161

Jyoti Sharma

Genome reference wars: T2T-CHM13 vs. GRCh38 for Next-Generation Sequencing analysis.

158

Suruchi Aggarwal

Cell-free DNA-based Next Generation Sequencing LungTrack Advance test to detect actionable gene mutations and fusions in NSCLC patients.

157

Manju Lakshmi

VaRTK – An accurate machine learning model to predict the variant pathogenicity score

156

Akshi Bassi

Genome-wide polygenic risk score better predicts multi-vessel coronary artery disease compared to late-onset single vessel disease in the Indian population

155

Bhargavi R

Unravelling the Genetic Basis of Prostate Cancer Phenotype in the Indian Population

151

Reena Haobam

Association of NOS2A and TLR4 gene polymorphisms with susceptibility to tuberculosis in Manipuri population of northeast India.

146

SriGanesh Jammula

MedGenome-DNAScar : An accurate and cost effective solution to predict HRD Status

143

Shruti Jawale

TRIOBP gene mutation in non-syndromic hearing loss: A compelling case study with a new variant

142

Shriyansh Srivastava

Comparative gene co-expression network analysis: Insights into key genes and pathways associated with healthy and prediabetic phenotypes.

141

Rashmi Hemani

Effect of Human Leucocyte Antigen Genotypes on Tacrolimus Pharmacokinetics in Renal Transplant Patients

140

Anjana Kar

Exome Sequencing as first line of investigation in a cohort of 50 families with Syndromic Global Developmental Delay

139

Saurabh Kulkarni

Screening and Functional Analysis of Birth Defect Varinats

138

Pooja Motwani

Secondary findings in the research exome cohort: Spectrum and Clinical translation.

137

Dhamodharan Shankar

The EGFR-AS1 genetic variant rs10251977 (G>A) regulates the expression of EGFR isoforms A and D.

136

Naitika Bhavsar

Preventive Genetics in Reproductive Decision-Making: A Case Study of Preimplantation Genetic Testing for Hypomyelinating Leukodystrophy-18.

134

Priya Kajla

SurfacOmics, an R shiny application for biomarker prioritization using Elastic-Net Regression complemented by sub-cellular localization.

131

Aparna Bhanushali

Medically actionable incidental findings in healthy exomes

130

Kashish Gupta

Transcriptomic analysis to identify potential biomarkers to demarcate tumor and non-tumor tissue in oral cancer.

129

Deepika Jain

Clinical, Demographic and Genetic Profile Observed in a Cohort of 18 Indian Children With Rett Syndrome

128

Bansari Pandya

Genotoxic effects of occupational exposure in women rag pickers at a dump site and it’s mitigation by Vitamin C.

127

Jennifer Tellis

Familial cancer genomics and lessons learnt from Whole Exome Sequencing

124

Gopika K N

Further evidence of biallelic variants in FTO as a cause of growth retardation, developmental delay, and facial dysmorphism

121

Hari Kumar

Whole Genome Sequencing Improves the Diagnosis of Neuromuscular Disorders

120

Siddhi Jani

Runs of Homozygosity (ROH) analysis in Indian aging cohorts: Contrasting homozygosity patterns in rural and urban populations and their genetic implications

117

Vanya Singh

Genome-wide association study and protective role of CSMD1 gene in cervical cancer patients of Gangetic plain.

113

Gyan Ranjan

SCAR-6 lncRNA epigenetically regulates PROZ and modulates coagulation and vascular function.

112

Gayatri Iyer

Methylation specific polymerase chain reaction to improve diagnostic yield of pediatric disorders with intellectual disability, abnormal growth and behaviour

110

Khushboo Gautam

Genetic polymorphic diversity and Ancestry among the Sindhi-Indian population based on 28 Autosomal STR’s: A procurement of a forensic database

109

Nilam Parmar

Therapeutic efficacy of curcumin nanoformulation in suppressing TGF-β-mediated in vitro breast cancer progression.

108

Bhavna Ahlawat

Unlocking the genetic history of Vadnagar archaeological complex using paleogenomics

107

Dhrumi Thaker

Case Report: Apparent Mineralocorticoid Excess (AME): A rare cause of monogenic hypertension

106

Nidhi Tripathi

Exploring the interplay between potential apoptosis oxidative stress and DNA fragmentation in sperm of infertile patients

105

Arumugam Suriyam Nagappan

Genetic determinants of Provoked and Unprovoked Deep Vein Thrombosis in south Indian population

104

Akshaya Udayakumar

Influence of KIF6- rs20455 (Trp719Arg) gene polymorphism as a pharmacogenetic marker for atorvastatin response in coronary artery patients of South India

103

Rajesh Shanmugam

Prevalence and genetic association of pharmacogenetic variant of CYP4F2 p.V433M (rs2108622) in Deep vein thrombosis – A south Indian pilot study

101

Bharath Govindaswamy

Pharmacogenetic association of CYP2C19*2 (rs4244285) polymorphisms in determination of high on-treatment platelet reactivity (HTPR) in Coronary Artery Disease (CAD) patients - An experimental and Meta-Analysis investigation

99

Vaishnavi Varadharajan

Study on the Impact of MicroRNAs Present in the Autism Associated Copy Number Variations

98

UmaDharshini Karuppiah Vijayamuthuramalingam

Comparative in-silico and expression analysis of noncoding RNA ZFPM2-AS1 in Oral Squamous cell carcinoma

94

Priya Chaudhary

Assessment of Intermittent fasting as an effective strategy for management of overweight and obesity conditions.

87

Trupti Rale

Rapid Testing of G6PD Deficiency in Neonates for Clinical Settings

86

Preeti Arora

Newborn genetic screening: A promising technology and potential breakthroughs.

82

Janaki Nair M

Unravelling the Genetic Landscape of Childhood Obesity in Indian Adolescents

78

Gaurav Amale

Integrative genomics approach to investigate the role of Transcription Factors in Complex Diseases.

77

Krishna Vardhani Kompella

Advancing epilepsy treatment through personalized medicine: Insights from pharmacogenomic studies of valproic acid in two cases.

73

Piyali Mondal

Heterogeneous Cell Populations and Dynamics in the Placenta of Indian Women

72

Divyank Varshney

Understanding the contribution of maternal telomere homeostasis genes in spontaneous preterm birth.

71

Brindha Senthil Kumar

Classification of Pathogenicity from Germline Missense Variants using Machine Learning Algorithms

69

Karthik C

Lentiviral Vectors in Gene Therapy of β-Globinopathies;A Pursuit for a Strong Backbone

62

Devyani Charan

Identification of hub genes involved in prolactin signaling and immuno-modulation in triple negative breast cancer- an in silico study

54

Suruthi Abirami B

Unraveling the Genetic Basis of Recurrent Hydatidiform Mole: Significance for Genetic Counseling, Diagnosis, and Treatment Approaches.

51

Shalini Dhiman

Insight the congenital autopod malformations in north Indian patients

49

Shyamveer Bharati

Impact of MTP -493G/T and ABCG2 34G/A Polymorphisms and its expression on PI-treated HIV patients with dyslipidemia

47

Pratheusa Machha

Genetic diversity in the populations of India - Impact of founder events.

45

Riddhi Tikhe

Our experience of enzyme replacement therapy (ERT) in Gaucher disease and Hunter disease (MPS-II) patients

42

Gowri Rao

Mission Program on Pediatric Rare Genetic Disorders (PRaGeD)

39

Harinder Singh

High-resolution HLA sequencing identified novel association at C*15:02 and suggested clinical relevance of DPB1*04:01 for ANCA-associated granulomatosis with polyangiitis: A pilot study on a north Indian cohort from Delhi

32

Kondyarpu Abhishek

From genetics to epigenetics, journey of GeMemiOM- the first curated database of Genes, putative Methylation targets and miRNA targets for Otitis Media

30

Aara Patel

Developing targeted therapies for Norrie disease

29

Leena Rawal

Identification of a rare variant in SRD5A2 gene in siblings with 46,XY Disorder of Sex Development

27

Sundaravadivel Pandarisamy

Platelet ADP receptor gene (P2RY1) polymorphism determines the risk of aspirin inadequate response in patients with ischemic stroke

23

Ruchika Raghuvanshi

Comprehensive gene screening among individuals with non-syndromic hearing loss from Odisha population

15

Sakshi Shrivastava

Relevance of Genetic Counselling for appropriate management after New Born Screening

14

Parandhaman Arumugam

Prevalence of Intellectual Disability(1-18years) in Tirupattur District, Tamilnadu – Community Based Study

9

Jhanvi Shah

Detection of a structural variant by long read sequencing in a patient with non-syndromic autism spectrum disorder.

8

Hetankshi Patel

Detection of a rare balanced complex chromosomal rearrangement in a healthy female and recurrent holoprosencephaly in the fetuses

7

Manali Ajagekar

Delineating genetic architecture of male infertility in India

6

Tejasvi Dhondekar

Deciphering role of de novo variants in genetic etiology of male infertility in India

5

Aadhira Nair Jayesh Sheth

Adult-onset lysosomal storage disorders in India: Experience from a tertiary genetic centre and review of literature

3

Jatinder Sahota

Mis-annotation profiling in DisGeNET v7.0.