Nucleome Informatics

NKC Centre For Genomics Research by Nucleome is South Asia’s one of the most advanced genomics lab working on rare disease, oncology and research.

[Soumya Swaminathan @doctorsoumya]

I am grateful for all the messages I have received congratulating me for my election as Fellow of the @royalsociety.

[Nucleome Informatics @Nucleome]

Our team is participating in @PacBio Prism 2026 at Fukuoka Japan. Our CEO Dushyant Singh Baghel and Dr Sathish Peddamma DGM R&D will be available for the discussion. #PacBioPrism2026

[Nucleome Informatics @Nucleome]

DrSeq Lab is sponsoring the Patient First Summit and awards at Novotel HICC Hyderabad India with IHW Council.

[EURORDIS-Rare Diseases Europe @eurordis]

What happens when there is no diagnosis❓For millions, this is reality.

⏳ 5 years on average to diagnose a rare disease
🔍 44% consult 4+ healthcare professionals

On #UndiagnosedDay, we stand with those still searching for answers.
🔗 https://t.co/yEnTdWBkuo

[Nucleome Informatics @Nucleome]

Deeply saddened by the passing of J. Craig Venter. His contributions to genomics were monumental, and his loss is immense for the entire scientific community. Our sincere condolences to his family, colleagues, and friends. A legend who will never be forgotten.
#RIP

[MSSRF @mssrf]

MSSRF is excited to launch a new podcast series, Science Simply.

Our first episode drops on May 5 and tackles the question on everyone’s mind: how do we cope with a world that keeps getting hotter? Let’s ask the science.

Science Simply breaks down complex science into simple usable ideas and actionable takeaways. Hosted by Dr. Soumya Swaminathan (@doctorsoumya), one of the most trusted scientists and public health voices, each episode will bring you clear answers to big questions—from climate and health to food and nature.

🎙️ Tune in on May 5th.

[R.R SATYANARAYANA. 9963962777 @Satyana17522644]

I am andra Pradesh weaver
R R Satyanaraya. Rare hand woven indian national flag without any joints with ashok chakra 24 spokes 2400 threads four years hard work please share my hard work sir @narendramodi 🙏

[Nucleome Informatics @Nucleome]

Unlocking Early Detection: How Whole #Genome #Sequencing (WGS) with HiFi Technology is Revolutionizing #Newborn Screening for #RareDiseases @PacBio

https://t.co/G1NseJlwjM

[Nucleome Informatics @Nucleome]

Unlocking the Genetic Code: How HiFi Sequencing Revolutionizes #RareDisease Diagnostics – Insights from Global Case Studies and Nucleome’s Expertise in #India
https://t.co/jfQJql0RVe

[Soumya Swaminathan @doctorsoumya]

80% of brain development happens in the 1st 6 years of life! Starting with good antenatal care, exclusive breast feeding for 6 months, a safe & caring environment, quality complementary feeds & play & stimulation all needed to fulfil a baby’s genetic potential. #PoshanPakhwada

[Nucleome Informatics @Nucleome]

@DrJitendraSingh @BRIC_CDFD Congratulations Sir.

[Nucleome Informatics @Nucleome]

Congratulations team India @BCCI

[Department of Biotechnology @DBTIndia]

DBT Success Stories 2025 | In Spotlight

Advancing precision diagnostics for rare genetic disorders 🧬

Researchers at @BRIC_CDFD are integrating genomics, biochemistry, cell-based systems, and mouse models to uncover novel gene–disease associations and interpret variants of uncertain significance in monogenic disorders.

The team identified a biologically significant
nonsense variant in the novel gene Serpin A11, linked to a perinatal lethal serpinopathy, and is investigating its role in early fetal development.

They are also developing a cell-based colorimetric assay for Glycogen Storage Disorder Type 1A (G6PC1 deficiency), reducing reliance on invasive liver biopsies.

Through these efforts, BRIC–CDFD is strengthening rare disease diagnostics and enabling informed genetic counselling.

🧬 Research insights shared by Dr. Rashna Bhandari, Staff Scientist, BRIC–CDFD
🔬 Contributions by Shrutika Padwal, PhD Scholar, and Yodhaanjali, Project Associate

#DBTSuccessStories #RareGeneticDisorders #PrecisionMedicine

@DrJitendraSingh
@rajesh_gokhale
@BricDbt
@NABI_India @bric_ils @NIPGRsocial @NImmunology
@FollowDbtNibmg @HydNiab @BRIC_CDFD
@DBT_NCCS_Pune @ICGEB @DBT_inStem
@RGCB_Trivandrum @THSTIFaridabad @ICGEBNewDelhi @unescorcb @BIRAC_2012

[CSIR, India @CSIR_IND]

Love your tea, but not the caffeine?

CSIR–North East Institute of Science and Technology (@CSIR_NEIST) presents India’s first indigenously developed decaffeinated black tea—with 90–95% less caffeine, yet the same rich flavour you love.

Enjoy the tea, minus the caffeine.

@DrJitendraSingh

[DSTIndia @IndiaDST]

Anusandhan National Research Foundation @ANRFIndia Sets Course for India’s Innovation-led Journey to 2047, Strengthening R&D driven Economic Growth:- Hon'ble Union Minister @DrJitendraSingh at Foundation Day Event.

@PrinSciAdvGoI @karandi65 @EduMinOfIndia
🔗 https://t.co/1mlSNJ3rVS

[DSTIndia @IndiaDST]

At the press conference on the launch of first call of the #RDI Fund through @tdbgoi, Hon’ble Union Minister @DrJitendraSingh highlighted that the ₹1 lakh crore RDI Fund offers low-interest, flexible funding with equity support & has received strong response from the private sector.

Designed to be used in its true spirit, the fund enables projects to reach maturity, take off sustainably, and build healthy public-private partnerships—with handholding from the @IndiaDST's and @tdbgoi's support.

@karandi65 @ANRFIndia

[Nucleome Informatics @Nucleome]

@ANRFIndia @CSIR_CDRI Congratulations to the entire team of ANRF. Good luck and many more fruitful years to come.

[Nucleome Informatics @Nucleome]

In January, we delivered a record 25 family trios, comprising 75 whole #genome HiFi sequencing data of #RareDisease unresolved cases, to @BRIC_CDFD in just 25 days. This enabled the Heckathon to be conducted within a very tight schedule. https://t.co/SJM5XWa5u0

[Nucleome Informatics @Nucleome]

@IndiaDST Great initiative. We hope there will be some scope for MSMEs to participate and benefit from this agreement.

[DSTIndia @IndiaDST]

Congratulations to all the #Padmashri2026 awardees whose pioneering work continues to strengthen India’s science, technology and innovation ecosystem.

Their contributions across critical sectors reflect the spirit of #Atmanirbharta and nation-building through indigenous excellence.

@IndiaDST extends its warmest wishes to the awardees for inspiring progress and innovation.

@rashtrapatibhvn @PMOIndia @DrJitendraSingh @karandi65 @DBTIndia @CSIR_IND @moesgoi @isro