Svetlana Gorokhova
@sgorokhova.bsky.social
Svetlana Gorokhova, M.D., Ph.D., is working in Marseille Medical Genetics (@univamu) and @aphm-chu-marseille in Marseille, France, remote member of NNDCS @NIH @NINDSnews
Reposted by Svetlana Gorokhova
I am delighted to finally share our new preprint exploring the role of RBMX and its retrocopies in neurodevelopment:
👉🏻Read the full preprint here:
www.medrxiv.org/content/10.1...
Below are the key findings 👇🏻
👉🏻Read the full preprint here:
www.medrxiv.org/content/10.1...
Below are the key findings 👇🏻
RBMX functional retrocopy safeguards brain development
Retrotransposition has generated thousands of intronless gene copies in mammalian genomes, yet their contribution to brain development and evolution remains largely unexplored. Here we uncover a criti...
www.medrxiv.org
October 26, 2025 at 3:53 AM
I am delighted to finally share our new preprint exploring the role of RBMX and its retrocopies in neurodevelopment:
👉🏻Read the full preprint here:
www.medrxiv.org/content/10.1...
Below are the key findings 👇🏻
👉🏻Read the full preprint here:
www.medrxiv.org/content/10.1...
Below are the key findings 👇🏻
Great start of the World Muscle Society #WMS2025 meeting in Vienna - an impressive wheelchair soccer match during the opening ceremony and Society’s 30y anniversary cake this morning! Now to the science with the first session on multisystemic alterations in muscle disease www.wms2025.com
Home - WMS 2025
www.wms2025.com
October 8, 2025 at 8:03 AM
Great start of the World Muscle Society #WMS2025 meeting in Vienna - an impressive wheelchair soccer match during the opening ceremony and Society’s 30y anniversary cake this morning! Now to the science with the first session on multisystemic alterations in muscle disease www.wms2025.com
Reposted by Svetlana Gorokhova
🧐 This is how quality control works in our cells 🧬
Researchers from the #unicologne and the @mdc-berlin.bsky.social have cracked the code of a crucial mechanism of cellular quality control in humans. 👇
uni.koeln/RRCLZ
Researchers from the #unicologne and the @mdc-berlin.bsky.social have cracked the code of a crucial mechanism of cellular quality control in humans. 👇
uni.koeln/RRCLZ
Cellular quality control in humans decoded
A research team at the University of Cologne and the Max Delbrück Center in Berlin has deciphered in detail the rules behind an important mechanism of cellular quality control in humans / Publication ...
uni.koeln
September 12, 2025 at 12:51 PM
🧐 This is how quality control works in our cells 🧬
Researchers from the #unicologne and the @mdc-berlin.bsky.social have cracked the code of a crucial mechanism of cellular quality control in humans. 👇
uni.koeln/RRCLZ
Researchers from the #unicologne and the @mdc-berlin.bsky.social have cracked the code of a crucial mechanism of cellular quality control in humans. 👇
uni.koeln/RRCLZ
Reposted by Svetlana Gorokhova
After our study on RNU4-2 and RNU5B-1 published in May (Nava et al, Nature Genetics 2025), I am excited to share our new preprint reporting dominant and recessive variants in RNU2-2 as a frequent cause of developmental and epileptic encephalopathy (DEE).
📄 www.medrxiv.org/content/10.1...
📄 www.medrxiv.org/content/10.1...
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
Variants in spliceosomal small nuclear RNA (snRNA) genes RNU4-2 (ReNU syndrome), RNU5B-1 , and RNU2-2 have recently been linked to dominant neurodevelopmental disorders (NDDs), revealing a major, prev...
www.medrxiv.org
September 5, 2025 at 3:32 PM
After our study on RNU4-2 and RNU5B-1 published in May (Nava et al, Nature Genetics 2025), I am excited to share our new preprint reporting dominant and recessive variants in RNU2-2 as a frequent cause of developmental and epileptic encephalopathy (DEE).
📄 www.medrxiv.org/content/10.1...
📄 www.medrxiv.org/content/10.1...
There is a new term that describes a translated region - "translon". This replaces multiple terms, such as ORF, CDS, non-canonical ORF etc.
A large consortium of researchers introduces the term 'translon' to denote any transcriptome region that is decoded by ribosomes.
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Translon: a single term for translated regions - Nature Methods
Nature Methods - Translon: a single term for translated regions
www.nature.com
September 7, 2025 at 8:32 PM
There is a new term that describes a translated region - "translon". This replaces multiple terms, such as ORF, CDS, non-canonical ORF etc.
There's a new nomenclature for a translated region - "translon". This replaces multiple other terms, such as ORF, CDS, non-canonical ORF etc.
A large consortium of researchers introduces the term 'translon' to denote any transcriptome region that is decoded by ribosomes.
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Translon: a single term for translated regions - Nature Methods
Nature Methods - Translon: a single term for translated regions
www.nature.com
September 7, 2025 at 8:26 PM
There's a new nomenclature for a translated region - "translon". This replaces multiple other terms, such as ORF, CDS, non-canonical ORF etc.
Reposted by Svetlana Gorokhova
DMD duplications on carrier screening are not always pathogenic. Many are interspersed and benign. Assuming tandem equals disease risks misclassification. Long read sequencing reveals structure and can prevent unnecessary interventions. bit.ly/3HI4b2v
August 28, 2025 at 12:02 AM
DMD duplications on carrier screening are not always pathogenic. Many are interspersed and benign. Assuming tandem equals disease risks misclassification. Long read sequencing reveals structure and can prevent unnecessary interventions. bit.ly/3HI4b2v
This is a great reminder of the pitfalls of precomputed SpliceAI scores.. and a solution to quickly identify the variants that need to be re-annotated with SpliceAI github.com/Computationa...
August 29, 2025 at 11:39 AM
This is a great reminder of the pitfalls of precomputed SpliceAI scores.. and a solution to quickly identify the variants that need to be re-annotated with SpliceAI github.com/Computationa...
Reposted by Svetlana Gorokhova
Also, check out the News & Views summarizing our findings, written by Youjia Guo & @themodzlab.bsky.social 🤩🤩
www.nature.com/articles/s41...
www.nature.com/articles/s41...
July 9, 2025 at 10:09 AM
Also, check out the News & Views summarizing our findings, written by Youjia Guo & @themodzlab.bsky.social 🤩🤩
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Reposted by Svetlana Gorokhova
Excited to launch our AlphaGenome API goo.gle/3ZPUeFX along with the preprint goo.gle/45AkUyc describing and evaluating our latest DNA sequence model powering the API. Looking forward to seeing how scientists use it! @googledeepmind
June 25, 2025 at 2:29 PM
Excited to launch our AlphaGenome API goo.gle/3ZPUeFX along with the preprint goo.gle/45AkUyc describing and evaluating our latest DNA sequence model powering the API. Looking forward to seeing how scientists use it! @googledeepmind
Reposted by Svetlana Gorokhova
We are pleased to announce the publication of our manuscript "Mapping MAVE data for use in human genomics applications" in Genome Biology! 🧵 1/3 genomebiology.biomedcentral.com/articles/10....
Mapping MAVE data for use in human genomics applications - Genome Biology
Background Experimental data from functional assays have a critical role in interpreting the impact of genetic variants. Assay data must be unambiguously mapped to a reference genome to make it access...
genomebiology.biomedcentral.com
June 25, 2025 at 10:52 PM
We are pleased to announce the publication of our manuscript "Mapping MAVE data for use in human genomics applications" in Genome Biology! 🧵 1/3 genomebiology.biomedcentral.com/articles/10....
Reposted by Svetlana Gorokhova
🚨Interested in which genes are the true effectors behind the scenes of the #gwas results? 🚨
This new publication in Nature Genetics, a collaboration between @broadinstitute.org @ebi.embl.org @opentargets.org focuses on approaches to predicted effector gene reporting tinyurl.com/98yxy4hf (1/3) 👇
This new publication in Nature Genetics, a collaboration between @broadinstitute.org @ebi.embl.org @opentargets.org focuses on approaches to predicted effector gene reporting tinyurl.com/98yxy4hf (1/3) 👇
Realizing the promise of genome-wide association studies for effector gene prediction - Nature Genetics
This Perspective argues that predicting effector genes for complex diseases is a key outcome of genetic association studies where standards are urgently needed to maximize utility, improve interoperab...
tinyurl.com
June 11, 2025 at 9:01 AM
🚨Interested in which genes are the true effectors behind the scenes of the #gwas results? 🚨
This new publication in Nature Genetics, a collaboration between @broadinstitute.org @ebi.embl.org @opentargets.org focuses on approaches to predicted effector gene reporting tinyurl.com/98yxy4hf (1/3) 👇
This new publication in Nature Genetics, a collaboration between @broadinstitute.org @ebi.embl.org @opentargets.org focuses on approaches to predicted effector gene reporting tinyurl.com/98yxy4hf (1/3) 👇
Thanks to this new exome sequencing study, the number of genes with possible "human knockouts" goes up to 2,991!
Delighted that the 'flagship' manuscript on our @genesandhealth.bsky.social 44k exomes (British Pakistanis & Bangladeshis) is now preprinted. Great academic-industry collaboration. Lots of new associations (mostly additive, a few recessive) and new insights into homoz knockouts & drug discovery.
Preprint alert! 🚨
doi.org/10.1101/2025...
Our manuscript on Exome sequencing and analysis of 44,028 British South Asians, using @genesandhealth.bsky.social is now available at @medrxivpreprint.bsky.social!
We present several great results, and I’m thrilled to highlight the pieces I worked on:
doi.org/10.1101/2025...
Our manuscript on Exome sequencing and analysis of 44,028 British South Asians, using @genesandhealth.bsky.social is now available at @medrxivpreprint.bsky.social!
We present several great results, and I’m thrilled to highlight the pieces I worked on:
June 13, 2025 at 9:50 PM
Thanks to this new exome sequencing study, the number of genes with possible "human knockouts" goes up to 2,991!
Reposted by Svetlana Gorokhova
We're super proud to see our study showing utility of proteomics in ultra-rapid variant prioritisation for suspected mito and other rare diseases out in Genome Medicine (rdcu.be/endwE). Too many amazing collabs to thank, so here are the big ones @daniellahock.bsky.social @thorburnmito.bsky.social!
Cutting the diagnosis journey for children born with rare genetic diseases
Families can wait years for a diagnosis of a rare genetic disorder, but a new test can provide answers in days for a better understanding of the condition and potentially earlier treatment, finds new...
pursuit.unimelb.edu.au
May 23, 2025 at 12:57 AM
We're super proud to see our study showing utility of proteomics in ultra-rapid variant prioritisation for suspected mito and other rare diseases out in Genome Medicine (rdcu.be/endwE). Too many amazing collabs to thank, so here are the big ones @daniellahock.bsky.social @thorburnmito.bsky.social!
Reposted by Svetlana Gorokhova
Our recent paper is out: Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level buff.ly/Z0DcO9Q If you don't have access, our preprint is here buff.ly/z8UvVtY This paper emphasizes the critical benefit of VUS subclassification for physicians and patients.
April 13, 2025 at 10:46 AM
Our recent paper is out: Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level buff.ly/Z0DcO9Q If you don't have access, our preprint is here buff.ly/z8UvVtY This paper emphasizes the critical benefit of VUS subclassification for physicians and patients.
Reposted by Svetlana Gorokhova
I am delighted to share with you the news that our shiny new paper has hit the shelves in Genome Medicine!!
link.springer.com/article/10.1...
Key points (A 🧵):
link.springer.com/article/10.1...
Key points (A 🧵):
Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease - Genome Medicine
Background Both promoters and untranslated regions (UTRs) have critical regulatory roles, yet variants in these regions are largely excluded from clinical genetic testing due to difficulty in interpre...
link.springer.com
April 14, 2025 at 5:43 PM
I am delighted to share with you the news that our shiny new paper has hit the shelves in Genome Medicine!!
link.springer.com/article/10.1...
Key points (A 🧵):
link.springer.com/article/10.1...
Key points (A 🧵):
These new SGE (saturation genome editing) scores will definitely be useful to resolve the RNU4-2 VUSes in our patients!
🚨I could not be more excited to share our new preprint on saturation genome editing of the small nuclear RNA (snRNA) RNU4-2:
www.medrxiv.org/content/10.1...
A super fun collaboration with incredible duo @gregfindlay.bsky.social @joachimdejonghe.bsky.social from @crick.ac.uk
🧬🖥️🩺
🧵1/12
www.medrxiv.org/content/10.1...
A super fun collaboration with incredible duo @gregfindlay.bsky.social @joachimdejonghe.bsky.social from @crick.ac.uk
🧬🖥️🩺
🧵1/12
Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders
Recently, de novo variants in an 18 nucleotide region in the centre of RNU4-2 were shown to cause ReNU syndrome, a syndromic neurodevelopmental disorder (NDD) that is predicted to affect tens of thous...
www.medrxiv.org
April 11, 2025 at 10:52 AM
These new SGE (saturation genome editing) scores will definitely be useful to resolve the RNU4-2 VUSes in our patients!
Reposted by Svetlana Gorokhova
🚨 Big news at #ACMG2025! 🚨
Today we’re announcing global democratization of deidentified allele count + frequency data with population breakdown from the first ~250k short-read WGS in All of Us designed to plug straight into clinical workflows. It is ~1.1 billion unique variants! 🧬💡
🧵 (1/4)
Today we’re announcing global democratization of deidentified allele count + frequency data with population breakdown from the first ~250k short-read WGS in All of Us designed to plug straight into clinical workflows. It is ~1.1 billion unique variants! 🧬💡
🧵 (1/4)
March 21, 2025 at 2:21 PM
🚨 Big news at #ACMG2025! 🚨
Today we’re announcing global democratization of deidentified allele count + frequency data with population breakdown from the first ~250k short-read WGS in All of Us designed to plug straight into clinical workflows. It is ~1.1 billion unique variants! 🧬💡
🧵 (1/4)
Today we’re announcing global democratization of deidentified allele count + frequency data with population breakdown from the first ~250k short-read WGS in All of Us designed to plug straight into clinical workflows. It is ~1.1 billion unique variants! 🧬💡
🧵 (1/4)
Reposted by Svetlana Gorokhova
DECIPHER version 11.30 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
March 21, 2025 at 12:18 PM
DECIPHER version 11.30 has been released. See the new features at www.deciphergenomics.org #variantinterpretation
Reposted by Svetlana Gorokhova
Unpicking non-coding genetic variation: Structure-guided modelling holds promise for evaluating how single nucleotide variants affect transcription factor binding. www.biorxiv.org/content/10.1.... @uoe-igc.bsky.social
March 21, 2025 at 10:22 AM
Unpicking non-coding genetic variation: Structure-guided modelling holds promise for evaluating how single nucleotide variants affect transcription factor binding. www.biorxiv.org/content/10.1.... @uoe-igc.bsky.social