Discover and read the best of Twitter Threads about #Genomics

Most recents (24)

1/50 #Science is an ongoing process that serves to investigate phenomena, gain new insights or "correct prior knowledge" and this only works in #discourse. This includes diversity of #Opinion, #tolerance and a broad debate space. This is a large thread.
2/50 "#trust the science" is in my view the most #antiscience statement ever. #Questioning science is how you do #Science. This thread gives some examples and further questions.…
3/50 What about good ##scientific #Practice? I found a glaring example here (of all things, in what I consider to be a rush to #vaccine #approval). #blotgate…
Read 28 tweets
🧵 A few facts from our recent research review showing why more awareness and research are needed for familial brain aneurysm syndrome...

#RareDiseaseDay #Genomics #Research
1) No one is collecting prevalence data in the UK. Globally, research suggests the prevalence of unruptured brain aneurysms in people with a family history has been recorded as 2.3%-29.4%. This is higher than in the general population, reported to be around 0.02%-8.8%.
2) Researchers looking into familial brain aneurysms have found more than 30 genes linked to increasing the susceptibility to brain aneurysm development in families. No single gene or multiple genes have been confirmed, but a breakthrough will come with more research.
Read 5 tweets
1/As promised & after reading $CRSP latest Q4 2022 #financial #report here is my impression regarding @CRISPRTX latest corporate status. I have focused only on the main issues that I found to be the most interesting & relevant. #CRISPR #BioTech #FinTwit #Genomics #GeneEditing 🧵 CRISPR Therapeutics, a biopharmaceutical company focused on
2/IMO the most significant corporate event in Q4 was $CRSP announcement that regulatory Exa-cel submissions of both #SickleCell & #BetaThalassemia validated in the #EU & #UK & that the @US_FDA BLA submission is on track by the end of Q1 ‘23 - possibly reaching the #markets in ‘23 Regulatory submissions complete for exagamglogene autotemcel
3/Exa-cel/CTX001 - the key program in $CRSP portfolio, is an #autologous Ex-Vivo #CRISPR/#Cas9 #GeneEditing therapy aimed for patients suffering from #TDT or severe #SCD. The latest readout for both programs was phenomenal with 42/44 TDT & 31/31(!) demonstrated remarkable results 3/Exa-cel - formally known as CTX001 and the key program in
Read 17 tweets
As we see videos in social media of the first $PACB PacBio Revio to enter the @broadinstitute , with the promise of the long-read $1000/genome in place, what does it look like today to set up a Next-Generation Sequencing factory/institute?
There have been many of these institutes come and go, and probably the @broadinstitute (Cambridge, US) and the @sangerinstitute (Cambridge, UK) are the two referents in historical terms and in their magnitude of achievements in #genomics. So if we take them as an example, what do
we learn from them?
1) They were successful at being early adopters of large-scale Sanger Sequencing.
2) They were very well funded from the get-go, and contributed in large part to the success of sequencing the reference #human #genome in 2000-2001.
Read 46 tweets
1/ My favourite gene has 15 transcripts, which one should I use for further analysis? To report the position of variants? To design primers for? 🤯

This #tweetorial will show you how to filter and prioritise transcripts… 🧵

#genomics #bioinformatics #Ensembltraining 🧬 Screenshot of the transcript table of the LAMA3 gene in the
2/ To start, look for the #canonical tag in the flags column of the transcript table. The canonical transcript is based on conservation, expression, concordance with @appris_cnio and @uniprot, length, clinically important variants and completeness. Screenshot of the transcript table of the LAMA3 gene in the
3/ Many Ensembl #canonical transcripts will also be the #MANESelect, which is our collaboration with @NCBI. These transcripts match perfectly with RefSeq transcripts, so are the best to report variant location. Screenshot of the transcript table of the LAMA3 gene in the
Read 8 tweets
I want to talk today about a methodological issue in #genomics research that has been around a long time but is still a major problem.
The reason is that today I reviewed another manuscript that has this exact problem.
First some background.
In genomics research we often do profiling of how genes are switched on and off in disease and development, and in these profiling tests we identify dozens to thousands of genes that could play a role in those processes
Gene names don’t tell us about their function. We could dig into the literature on them, but the lists are so big it takes too long. So we often use tools to summarise whether genes belonging to certain functional groups are over-represented. Image
Read 24 tweets
#Genetics and epigenetics of the #antiphospholipid syndrome
Dr. Gian Domenico Sebastiani
#APS #genomics 🧬🩸
#25TenTopicsBCN #TenTopics
#Genetics and epigenetics of the #antiphospholipid syndrome: #HLA
#APS #genomics 🧬🩸
#25TenTopicsBCN #TenTopics
#Genetics and epigenetics of the #antiphospholipid syndrome: population studies
#APS #genomics 🧬🩸
#25TenTopicsBCN #TenTopics
Read 5 tweets
🚨🌊Are you ready for the Thursday thread 🧵of job #opportunities for early-career #scientists in marine and #ocean #Science?


Look down there!👇

#ECR #PhDchat #PhDjobs #ScienceJobs #PostDoc #Academictwitter #Internships #Researcher
🚨🌊@giulia_ghedini lab at @IGCiencia in Lisbon is recruiting a postdoc ( and offering a research fellowship (master required) ( to work on metabolic adaptation in phytoplankton communities

🚨Deadline: 31st Jan
🚨PhD opportunity!

5-year teaching & research studentship at
@PlymUni with @DrSimonIngram and @ClareEmbling studying #cetacean #abundance, #distribution and exposure to #shippingnoise joint with @CefasNoise…

📢Deadline: 26th Jan
Read 31 tweets
The science of #immunotherapy can cure a patient's otherwise incurable cancer.

But sometimes immunotherapy fails completely

Shockingly, we hardly know why.

A meta-analysis of #Genomics & #Transcriptomics in >1,000 immunotherapy-treated patients aims to better understand why🧵
This 2021 @CellCellPress paper is one of the best #DataScience #Bioinformatics resources out there for understanding the genetic determinants of response to immune checkpoint inhibitors (ICIs).…
Some context:

PD-1 & PD-L1 inhibitors are examples of ICIs.

ICI is a type of immunotherapy that un-blocks the immune system & allows it to mount attacks🤺

It does it by inhibiting checkpoints (s.a. PD-1 & PD-L1): proteins that keep the immune system from attacking its own self
Read 28 tweets
🧵My Top Science Themes for Biotech:

1. #AI/#ML and #Automation in Drug Discovery
3. #Genomics
4. #SyntheticBiology
5. #iPSC
6. #TargetedTherapies
1/ #AI/#ML and #automation

1. $RLAY
2. $RXRX
3. $EXAI
4. $ABCL
5. $SDGR

1. $BEAM
2. $NTLA
3. $CRSP
4. $VERV
5. $PRME
Read 8 tweets
1/ Are you ready for 🎄🎅Chirstmas #Tweetorial? Whether you need the sequence for a single exon or whole #genome we got you covered! In the spirit of #Christmas, we will use Vitis vinifera 🍇 🍷in our example
#genomics #bioinformatics #Ensembltraining
2/ If you need the sequence of a single #gene, you can search for the gene symbol or ID from Ensembl homepage and click on ‘Sequence’ in the menu on the left
3/ From this page, you can download the sequence of the gene by clicking on the blue ‘Download Sequence’ button just above the sequence display.
Read 10 tweets
Is #LiquidBiopsy the Future of #Cancer #Diagnostics? 💉🧬🤔

Standard cancer detection tests are done with #tissuebiopsies.🧫

These are invasive, risky, and expensive as they require an endoscope and open surgery.

An alternative approach to this is Liquid Biopsy which is performed by drawing blood.🩸

Liquid biopsy is an innovative solution to #cancerdetection.

▪️They use a much smaller sample and have a quicker turnaround for results compared to tissue biopsies.

▪️They are more advantageous in detecting a metastasized tumor - when cancer has spread to multiple sites.

Read 5 tweets
Excited to share our new manuscript on a novel #neuropeptide family that regulates #feeding across #evolution. Kudos to @Pat_TFrancisco for tackling this challenging project and coming up with the name @marmite . #homeostasis… 1/22
Also kudos to all our collaborators @TastekinIbrahim @EzraGili @fern1_ana @BartDeplancke @albinojorgemai @alisson_gontijo which allowed us to expand the scope of our study and contributed critical insights. It takes a village 2/22
The sequencing of #genomes has been a major milestone in #biology. We have precise maps of the #genome of animals and we think that we know all the major players. Especially the conserved ones which are so important that most animals have them. But is it really like that? 3/22
Read 22 tweets
Prokaryotic genome annotation is an important process in understanding the function and biology of bacteria and other prokaryotes.
Here are the top 10 pipelines for prokaryotic genome annotation🧵: #bioinformatics #DataScience #Genomics #Linux
#1: RAST (Rapid Annotation using Subsystems Technology) - a web-based tool for annotating bacterial and archaeal genomes
#2: Prokka - a fast, reliable, and easy-to-use annotation tool for bacterial and archaeal genomes
Read 12 tweets
1/@GraphiteBio presented preclinical results supporting the use of a single-#cell #RNA #sequencing method to assess #gene correction outcomes in #patients treated with nulabeglogene autogedtemcel (nula-cel) - GPH-101. #BioTech #CRISPR #GeneEditing #Genomics $GRPH #ASH22 GraphiteBio presented precl...
2/GPH101 (nula-cel) is a #CRISPR #Cas9 #GeneEditing autologous #stem #cell-based #therapy in clinical development aimed to treat #SickleCellDisease. GPH101 is designed to directly correct the underlying mutation, thereby decreasing HbS production & restoring HbA expression #ASH22 GPH101 (nula-cel) is a CRIS...
3 $GRPH gene correction platform involves editing hematopoietic #stem cells found in the #bonemarrow that develop into various types of #blood #cells. Since red blood cells lose their genomic DNA during maturation-tracking #GeneEditing in mature cells via sequencing is impossible Graphite bio’s gene correct...
Read 7 tweets
Are you interested in learning about #bioinformatics and working with #genomic data? Here's a detailed #learning path to get you started:
To build a strong foundation in biology, you'll need to learn about:
The #structure and #function of #cells, including the various #organelles and their roles in the cell. This will help you understand how cells work and how they carry out essential functions such as #metabolism and #energy production.
Read 12 tweets
🧵🧵 THREAD: #Bioinformatics applications - a deep dive into #pipelines and #workflows 🧵🧵
1. #Bioinformatics is the application of #computational techniques to the #analysis of #biological #data, such as #sequences, #structures, and #interactions, and is an essential field of modern biology and medicine.
2. #Bioinformatics has many exciting applications in various fields, such as #genetics, #genomics, #proteomics, and #metabolomics, that can provide new insights into the workings of living systems, and can help to advance science and society.
Read 8 tweets
Vevo Therapeutics has officially launched out of stealth today with an oversubscribed and upsized $12M seed financing. We are so excited to reveal what we have been building behind the scenes! 🧵1/6
We're building the world’s largest in vivo, single-cell atlas of how drugs interact with patient cells. Combining this atlas with next-gen #AI, we aim to capture in vivo context of disease at the first step of discovery & better represent #PatientDiversity in drug response 2/6
What does this mean for patients? Better targets that would otherwise be missed, and drugs that are more likely to treat more patients. 3/6
Read 6 tweets
🧵#Bioinformatics applied to genomics, a THREAD🧵🧵:
#Genomics is the study of the entire #genetic makeup of an #organism, including its #DNA sequence, #gene structure, and regulation of #gene #expression.
#Bioinformatics is the application of computational techniques, such as #machine #learning and data mining, to the analysis of large datasets of biological information, such as #genomic, #proteomic, and #metabolomic data.
Read 9 tweets
#Genomics is a rapidly growing field of #science that has revolutionized the way we understand #biology.
It has #applications in diverse fields. From #healthcare and #biotechnology to #climatechange, genomics is leading to some of the most exciting and world-changing discoveries in science and #medicine like:
1. Predicting Disease Risk:📊

Genomics can detect diseases long before symptoms present themselves. Early #diagnosis of a disease can significantly increase the chances of successful treatments like #cancer, #diabetes, #autism, etc.
Read 8 tweets
If you are looking for cheap biotech ideas, I suggest looking to these key themes. I call them my technology of the future themes. I will even throw in some names. Just be sure to do your own DD as this is spec biotech which is risky.
Read 6 tweets
🧬🧵here is a Twitter thread explaining #Bioinformatics in simple terms:🧬🧵
#Bioinformatics is the field that uses computational tools and methods to analyze and interpret #biological #data.
This can include analyzing #DNA and #protein #sequences, predicting the structure and function of #molecules, and modeling biological systems.
Read 7 tweets
Pediatric🧬Inborn Error of Immunity⚠️
*⃣ "mutations in RIPK1 are
a 🆕monogenic form of IBD"
Great work by Israeli 🇮🇱, Palestinian 🇵🇸 & US 🇺🇸 researchers… #bioinformatics #datascience #iot #snrtg #openscience #raredisease #gastro #genomics #immunology Image
Atypical, severe, immuno- phenotype in young patient(s)' ❓
➡️Think🤔 genetic
Sequence her/his🧬DNA.
Seek 🔎clues in the genome!
Sequence 🧬. Sequence 🧬. Sequence 🧬. Sequence 🧬. Sequence 🧬. Sequence 🧬. Sequence 🧬. Sequence 🧬. Sequence 🧬. Sequence 🧬. Sequence 🧬.
Read 5 tweets
New🔥 #DataScience #Bioinformatics resource: 850,000‼️ #scRNAseq cells from 226 samples across 10 cancer types draw a map of the tumor microenvironment, in particular fibroblasts.

Let’s see👇what are the main contributions of this work & what this means for #cancer #Genomics🧵 Image
But first, some background.

Cancers are (unfortunately) complex ecosystems,consisting of various types of cells.

Malignant cells represent only a fraction of the tumor. The rest is made of the tumor microenvironment/TME (fibroblasts + immune cells), with complicated dual roles. Image
Understanding the essence of this duality is key in understanding why most cancer therapies fail.

TME cells are plastic & can easily change states.

The same TME cells can either promote or suppress tumor development, depending on very subtle factors totally not well understood.
Read 22 tweets

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