Foundation for Research in Human Genetics & Endocrinology

18/04/2026

With the 5 days gone in a blip, it is wonderful to see how clinicians, scientists, and lab technicians with no prior experience in coding blossomed into full fledged coders!

Near the tail end of the workshop, participants were chomping at their laptops to code for long read sequencing alignment, sorting, indexing, variant calling, prioritisation, and causative variant detection. And they did brilliantly without a single error in their code!

As they say, welcome officially to the dark side 😄 you are now officially coders

Gujarat State Biotechnology Mission Sast Gtu Harsh Sheth

13/04/2026

An amazing start to the Hands on workshop on short and long read which is conducted jointly by , , and Gujarat Technological University (GTU). Participants ranged from senior clinicians (obstetrician and pediatrician), medical geneticists, laboratory geneticists, and genetic counsellors from 5 states.

Day 1 comprised of:
1. Basic quality criteria
2. Coding in
3. Alignment against reference genome
4. Variant calling using
5. Learning fundamental premise: garbage in = garbage out

Even with minimal prior experience, all participants were able to gain speed in coding, data analysis, and interpretation. 4 delightful days ahead for all of us.

Gujarat State Biotechnology Mission Oxford Nanopore Technologies Genotypic Technology Jayesh Sheth Harsh Sheth

31/03/2026

Our 14th iteration of the flagship and highly sought after 1 month hands-on training on clinical genomics and genetic counselling is beginning from May 2026!

The course is aimed at undergraduate and postgraduate students in biotechnology, biology, genetics, medicine and genetic counselling who want to gain a hands-on experience of techniques used in a clinical genetics and research labs.

To learn more about the course and apply, please follow this link: https://geneticcentre.org/news/frige-internship-and-training-program-(summer-edition-2026)/

Last date of application: Monday, 6th April 2026

The Foundation for research in genetics and endocrinology is a state of the art genetic diagnostics and transnational research firm.

29/03/2026

An absolute pleasure for our Head of Advanced Genomic Technologies Division - Dr Harsh Sheth - to interact with students of VVP Engineering College - India in Rajkot this week.

Had detailed interaction on the basics of clinical genetics, dysmorphology, methods of diagnosis, cancer prevention, diagnostic techniques, and most importantly - the ability of to be self reliant in technology development.

Showcased indigenous technologies from and for diagnosis of rare diseases, male infertility, and more recently genomic newborn screening.

Huge kudos to Prit Ashara and team for organising this wonderful seminar and thanks to Gujarat Council on Science and Technology (GUJCOST) for finding.

15/03/2026

📢FINAL days to go and only 2 places left!

and presents 5-day, hands-on workshop on bioinformatics analysis of short and long read sequencing datasets.

The is aimed at clinicians, postdocs, PhD students, and faculty members in clinical, medical, and biomedical genetics who wants to gain in-depth knowledge of bioinformatics analyses and interpretation of dataset results.

This hands-on workshop will provide a comprehensive overview and in-depth knowledge of the theory and practical approaches to designing bioinformatics pipelines, data handling, analysis of the raw data, quality control, variant calling, finding causative variants, and the use of these technologies in clinical and research settings.

Our :
1. Dr Harsh Sheth- over a decade of experience in computational biology, genomics, and statistics. He is the head of Advanced Genomic Technologies Division at and leads the team
2. Dr Dr Kshipra Chauhan- assistant professor Gujarat Technological University (GTU) and has over 15 years of experience in industrial genomics and bioinformatics
3. Dr. Ramesh Hariharan- CEO of Strand Life Sciences and a legend in the world of computational biology and statistics
4. Dr. Vedam Ramprasad- CEO of MedGenome Labs and a legend in developing and deploying genomic tests in India at scale

📅 Dates: 13th to 17th April, 2026
💳 Workshop registration fee: Rs 10,000 (includes all workshop materials, hands-on bioinformatics experiments, and tea/ coffee and lunch)
💻 Application portal: https://forms.gle/KWN4YLFd9b8yHMhm6
💻 Application deadline: 15th March 2026, 5pm IST.

Apply before all places are taken up!

GSBTM, DST, GoG

See below for more details 👇

14/03/2026

📢FINAL 2 days to go and very few places left!

and presents 5-day, hands-on workshop on bioinformatics analysis of short and long read sequencing datasets.

The is aimed at clinicians, postdocs, PhD students, and faculty members in clinical, medical, and biomedical genetics who wants to gain in-depth knowledge of bioinformatics analyses and interpretation of dataset results.

This hands-on workshop will provide a comprehensive overview and in-depth knowledge of the theory and practical approaches to designing bioinformatics pipelines, data handling, analysis of the raw data, quality control, variant calling, finding causative variants, and the use of these technologies in clinical and research settings.

📅 Dates: 13th to 17th April, 2026
💳 Workshop registration fee: Rs 10,000 (includes all workshop materials, hands-on bioinformatics experiments, and tea/ coffee and lunch)
💻 Application portal: https://forms.gle/gaLsdGs3H2V1Vc2MA
💻 Application deadline: 15th March 2026, 5pm IST.
Apply before all places are taken up!

Illumina Oxford Nanopore Technologie Gujarat Technological University (GTU) Dr Kshipra Chauhan GSBTM, DST, GoG

See below for more details 👇

13/03/2026

📢Our hands-on workshop on bioinformatics analysis of short and long read sequencing datasets in now on website (European Board of Medical Genetics)!

website: https://www.ebmg.eu/669.0.html

The is aimed at clinicians, postdocs, PhD students, and faculty members in clinical, medical, and biomedical genetics who wants to gain in-depth knowledge of bioinformatics analyses and interpretation of dataset results.

This hands-on workshop will provide a comprehensive overview and in-depth knowledge of the theory and practical approaches to designing bioinformatics pipelines, data handling, analysis of the raw data, quality control, variant calling, finding causative variants, and the use of these technologies in clinical and research settings.

📅 Dates: 13th to 17th April, 2026
💳 Workshop registration fee: Rs 10,000 (includes all workshop materials, hands-on bioinformatics experiments, and tea/ coffee and lunch)
💻 Application portal: https://forms.gle/DtUVcW1DPSaY1GUp9
💻 Application deadline: 15th March 2026, 5pm IST.

Only 3 days to go and few places left!



Huge thank you to Prof. Thomas Liehr !

See below for more details 👇

03/03/2026

📢 From and , we present 5-day, hands-on workshop on bioinformatics analysis of short and long read sequencing datasets.

The is aimed at clinicians, postdocs, PhD students, and faculty members in clinical, medical, and biomedical genetics who wants to gain in-depth knowledge of bioinformatics analyses and interpretation of dataset results.

This hands-on workshop will provide a comprehensive overview and in-depth knowledge of the theory and practical approaches to designing bioinformatics pipelines, data handling, analysis of the raw data, quality control, variant calling, finding causative variants, and the use of these technologies in clinical and research settings.

📅 Dates: 13th to 17th April, 2026
💳 Workshop registration fee: Rs 10,000 (includes all workshop materials, hands-on bioinformatics experiments, and tea/ coffee and lunch)
💻 Application portal: https://forms.gle/SntkVV4LGqiSE8eU7
💻 Application deadline: 15th March 2026, 5pm IST.
Only 15 places available for the workshop and priority will be given on first come first serve basis.

Gujarat State Biotechnology Mission Harsh Sheth

See below for more details 👇

03/03/2026

📢 New publication alert

Pleased to share our recent case report in the American Journal of Medical Genetics Part A on nucleotide-level breakpoint resolution of a genomically balanced complex chromosomal rearrangement ( ).

What makes this case special is the scale and mechanism: the CCR is balanced yet highly complex, involving 8 chromosomes (1, 4, 5, 6, 7, 15, 16 and X) and multiple breakpoint junctions—the largest reported to date, with a pattern likely driven by .

🔬 Our combinatorial “orthogonal” workflow
To solve this, we used a sequential, layered approach:
1. Conventional karyotyping to detect a CCR initially involving 5 chromosomes
2. Multicolor/spectral FISH toolbox (e.g., whole chromosome painting + multicolor banding) to map derivative chromosomes and refine the structure
3. Chromosomal microarray
4. Long-read on the PacBio Revio platform, followed by a custom SV-calling/curation workflow developed at together with Yale Centre for Genome Analysis, to resolve breakpoints at high resolution

Long-read sequencing expanded the event to 8 chromosomes with 14 breakpoints, including rearrangements that were missed by karyotype due to resolution limits.

💡 Why this matters?
Even when a CCR is “balanced” by copy-number testing, it can be functionally disruptive—in our case, breakpoint mapping implicated disruption of genes including NLGN4X, LAMA4 and ALG6, strengthening genotype–phenotype correlation and informing counseling.

📂 Link to the publication: https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.70105

Yale University Jayesh Sheth Frenny Sheth Harsh Sheth

Molecular characterization of balanced complex chromosomal rearrangements (CCR) aids in understanding the pathophysiological mechanism and corresponding genotype–phenotype correlations. The present c...

27/02/2026

In the run up to , our Head of Advanced Genomic Technologies Division (Harsh Sheth) had a very interesting, provocative, and engaging discussions about intersection of ethics, laws, regulations, and healthcare delivery in with law students at Gujarat National Law University

It is not just science, but transparent, efficient, ethical, equitable, and lawful implementation of discoveries in that help patients and their families.

25/02/2026

Our 14th iteration of the flagship and highly sought after 1 month hands-on training on clinical genomics and genetic counselling is beginning from May 2026!

The course is aimed at undergraduate and postgraduate students in biotechnology, biology, genetics, medicine and genetic counselling who want to gain a hands-on experience of techniques used in a clinical genetics and research labs.

To learn more about the course and apply, please follow this link: https://geneticcentre.org/news/frige-internship-and-training-program-(summer-edition-2026)/

The Foundation for research in genetics and endocrinology is a state of the art genetic diagnostics and transnational research firm.

06/02/2026

PUBLISHED 🎉 | India's first national biobank for Lysosomal Storage Disorders

Proud to share our new publication in Orphanet Journal of Rare Diseases on India’s first national biobank dedicated to lysosomal storage disorders (L*Ds).

What we built (and are now opening to the community):
🔹 530 L*D patients with linked clinical data + biological samples + DNA/genetic data (collected over 2008–2025)
🔹 A secure, centralized platform to curate and manage clinical, enzyme and genetic information
🔹 A structured access model to enable sample and data requests for research—so this becomes a true shared national resource

This biobank can power genotype–phenotype studies, natural history research, and precision medicine, and help strengthen India’s ecosystem for diagnosis, genetic screening, cascade/carrier screening, and future newborn/early-diagnosis programs—the building blocks for robust national/regional strategies in L*D care.

If you’re a clinician, scientist, or collaborator working in L*Ds and would like to use or partner with this resource, please reach out: https://geneticcentre.org/lsdbiobank/

Publication access: https://link.springer.com/article/10.1186/s13023-026-04195-8

Layman summary: https://geneticcentre.org/news/frige-scientists-develop-india's-first-national-biobank-for-lysosomal-storage-disorders/

*D Jayesh Sheth Frenny Sheth Harsh Sheth Department of Biotechnology, India Gujarat State Biotechnology Mission Indian Council of Medical Research

The Foundation for research in genetics and endocrinology is a state of the art genetic diagnostics and transnational research firm.