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Posts by Laura Fachal

Bioinformatician/Staff Scientist in Medical Genomics Do you want to help us improve human health and understand life on Earth? Make your mark by shaping the future to enable or deliver life-changing science to solve some of humanity’s greatest challenge...

I have an opening for a staff scientist or bioinformatician in my group at the Sanger Institute (closing date 24 March). Our current projects focus on disentangling rare and common variant contributions to rare neurodevelopmental conditions and to neurodevelopmental and perinatal traits. 1/2

1 month ago 14 13 1 0
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Why Are Women Still Taking Their Husband's Name? The practice comes from a law that made women into men's property.

While most women in the US & UK take husband's last name:
- Quebec: requires women to keep maiden name
- Italy: difficult to change last name
- France: maiden names are social & legal norm
- China, Vietnam, Korea, Ethiopia & Senegal: maiden names are norm
www.thepersistent.com/feminism-cha...

2 months ago 45 17 1 1

As a Spaniard living in the UK, I was culturally surprised to see younger professional women changing their surnames even today. For the same reason mentioned in the article, it feels to me like it carries a sense of belonging to one’s partner, which I personally find difficult to relate to.

2 months ago 2 0 1 0
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Congratulations to Daniel Malawsky, the winner of our 2026 postgraduate Sir Kenneth Mather Memorial Prize for their work with Dr @hilarycmartin.bsky.social!

genetics.org.uk/medals-and-p...

3 months ago 6 3 1 0

Es que ni aunque elijan dos células del mismo perro, estas serán iguales.
Se atreven a hacer un ensayo ciego, con cachorros clonados vs no clonados de la misma raza para validar sus afirmaciones de que los cachorros clonados se parecen a los adultos de los que derivan? En fin…

4 months ago 1 0 0 0

Nunca van a tener una copia exacta - no solo por la grandísima influencia de factores no genéticos, pero ni incluso a nivel genético! Dejando de lado el ADN mitocondrial, mutaciones a nivel somático que acumulan las células del perro adulto, que pasan a ser la línea germinal del cachorro clonado

4 months ago 0 0 1 0
Technical Specialist -CRISPR Screening in Neurodegeneration Do you want to help us improve human health and understand life on Earth? Make your mark by shaping the future to enable or deliver life-changing science to solve some of humanity’s greatest challenge...

NEW: Technical Specialist @sangerinstitute.bsky.social

Perform large-scale phenotypic CRISPR screens on human iPSC-derived microglia to identify modifiers of immune dysfunction relating to neurodegeneration 🧬

Apply by 11 January: sanger.wd103.myworkdayjobs.com/en-US/Wellco...

#ScienceJobs

4 months ago 3 2 0 0
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Genotype-level quality control substantially reduces error rates in population-scale whole-genome sequencing Population-scale whole-genome sequencing data will contain many individual-level genotype errors, even after allele-level quality control (QC). We establish the need for genotype-level QC using UK Bio...

New paper on everyone’s favourite topic, QC!
We show why you should do genotype-level QC on your WGS data

www.biorxiv.org/content/10.1...

Very real quotes about this paper -
“The most exciting, mind-blowing paper of the year!”
“On a par with Fisher 1918”
“I read it every night. Just so beautiful”

5 months ago 46 19 2 3
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I’m sure they didn’t mean to eliminate the woman in this image.

6 months ago 1948 377 120 29
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if you are today at #ECCO2025 It’ll be difficult to miss out this talk by @bradleyomics.bsky.social
presenting the work by both super ⭐️ Dr Harris and Dr Alegbe
This large dataset will be key to better understand the biology of IBD susceptibility mediated by genetics
Logo by Dr Harriet Banks

1 year ago 4 0 0 0
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Today is world cancer day. A brief overview from us and some helpful tips for prevention. Many thanks to Lucía, Carmen, Cris & Pablo for their contributions ❤️ #worldcancerday

1 year ago 5 2 1 0

The Week in Bio #34. Research highlights from the week including randomisation of a super-enhancer, catalytic LYTACs from Lycia Therapeutics and de novo design of binders for snake venom. Link below.

1 year ago 5 4 1 0
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Has Bluesky replaced X for scientists? Take Nature’s poll The research community has flocked to the social-media platform Bluesky. Tell us about your experience.

Our friends at Nature are exploring how scientists use Bluesky. Tell them about your experience by completing this short survey.

www.nature.com/articles/d41...

1 year ago 10 8 1 0
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Identity Characteristic Study Identity Characteristic Study

Women: You are invited to participate in a study of how identity characteristics influence women’s experiences of bias at work. Fill out the brief survey here: amy-diehl.com/study
(And please repost and share this link).

1 year ago 258 216 24 11
WINGS | edelblumlab Women Innovating in Gastrointestinal Science is a group of basic & translational GI researchers that provides a community to connect, empower and inspire female faculty.

If you are female PhD faculty in #GIresearch ( #basicscience or #translational), we invite you to join WINGS, Women Innovating in Gastrointestinal Science, a community for career development, mentorship & networking. Please fill out the form on our website and RT! bit.ly/4fHBWfj #GISky #Gastrosky

1 year ago 52 32 3 4

Please repost and share with others! (And women: take the survey--it is quick.)

1 year ago 6 3 0 0
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We are go! Follow the new #NatureReviews journals and #NatureProtocols starter pack

go.bsky.app/KcxvQLp

🧪 @natureportfolio.bsky.social

1 year ago 77 42 6 2
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🌟 Exciting news: The Leena Peltonen School of Human Genetics returns in 2025!

We're excited to bring PhD students together with an all-star list of leaders in human genetics.

📅 July 27-31, 2025

📍 Wellcome Genome Campus, UK

📝 Apply by March 7 at www.lpshg.com

1 year ago 49 28 1 3
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Looking forward to speaking in this session today at #SABCS24 @sabcs.bsky.social on the latest work on CanRisk tools (www.canrisk.org) for breast cancer risk prediction, including adaptations to ethnically diverse populations.

@crukcamcentre.bsky.social

1 year ago 6 1 0 1
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Out now! A look back at all the changes to the Open Targets Platform in the past two years 🖥️🧬

We've focused on adding data and analyses to help build therapeutic hypotheses, from expanding our associations page...

1 year ago 9 3 1 0

#skyMind 🧠, particularly #RNAbiology #RNAsky, can anyone help?

For the 'rule' that nonsense variants 50/55 bp upstream of the final exon-exon junction should elicit nonsense mediated decay, does anyone know of a reference that explicitly states that this includes junctions in the 3'UTR?

1/2

1 year ago 8 8 4 0
LinkedIn This link will take you to a page that’s not on LinkedIn

Does my mutation have the same impact as yours? Population genetics 🤠 🥸 🤓 🤡 meets single cell CRISPRi ⚡ ! www.biorxiv.org/content/10.1... Led by Claudia Feng, Oliver Stegle, Britta Velten, @sangerinstitute.bsky.social .

1 year ago 58 24 2 3
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It always cheers me up @sangerinstitute.bsky.social

1 year ago 2 0 0 0

@bradleyomics.bsky.social your favourite cell type

1 year ago 1 0 1 0
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@hilarycmartin.bsky.social

1 year ago 0 0 1 0

It has apparently only been 10 days(!), but with so many joiners it feels like a Bluesky lifetime since I created this!

Please help me make it more diverse and less dependent on my current network - looking for people that work in and mostly post about genomics of rare disease. Thank you!

🩺🖥️🧬

1 year ago 13 2 1 1
Table showing IBD drugs per administration route (UK only)

Table showing IBD drugs per administration route (UK only)

Hello IBDers - I put together this table of Crohn's and UC medication, according to whether you take the drug orally, by injection or by infusion.

May be useful if you have a preference for how you receive your #IBD meds. Based on UK prescribing only.

#IBDsky ##GastroSky #GISky

1 year ago 18 6 2 1
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Women are under-represented at senior levels in #academia globally, & across all #science 🧪 disciplines, as shown by these "scissor-shaped curves" ✂️

So how can we ever achieve #gender #equality?

We discuss various strategies in this #Cell Commentary

#WomeninSTEM

www.cell.com/cell/fulltex...
🧵 1/

1 year ago 1191 595 35 44
Official guide to which drug should and should not be used in the medical management of Crohn's disease, according to ECCO's guidelines of summer 2024.

Official guide to which drug should and should not be used in the medical management of Crohn's disease, according to ECCO's guidelines of summer 2024.

Which drugs should and shouldn't be used in the medical management of Crohn's disease, according to patient characteristics?

Here's an at-a-glance guide from ECCO's guidelines published earlier this year.

#IBD #Crohns #CrohnsDisease

1 year ago 9 3 0 0
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Nightingale Health on LinkedIn: Senior Data Scientist, Oxford, UK We are looking for a Data Scientist in Oxford, UK! 🇬🇧🔬   Become a part of our team enabling our blood testing technology that has the potential to change…

Nightingale Health UK is hiring!

www.linkedin.com/feed/update/...

1 year ago 10 6 0 0