ℂathal Ó ℝuaidh

Postdoctoral researcher in Bioinformatics/Psychiatric Genomics. Labhair Gaeilge liom. He/Him/É

[ℂathal Ó ℝuaidh @cathaloruaidh]

Delighted that my very first PhD paper is available online in Briefings in Bioinformatics, I really enjoyed working on this project! Here’s a quick thread on some pitfalls (with solutions) for converting single nucleotide variants between genome builds (1/9)

[TTMI - Trinity Translational Medicine Institute @TCDTMI]

🚨 A patient with a mysterious disease has been admitted to St. James’ Hospital! Your team must solve medical challenges, gather clues & uncover the cause before time runs out!⏳👩‍🔬👨‍🔬
🔹 EventBrite tickets
🔹 Teams up to 6
🔹 1 hour incl. TTMI tour
🔹 Part of #ERN2025 @tcddublin

[nature @Nature]

In an unprecedented move, the NIH will soon disinvite dozens of scientists who were about to take positions on advisory councils that make final decisions on grant applications for the US agency, Nature has learnt.

https://t.co/dpqnoigp6A

[Nicholas Fabiano, MD @NTFabiano]

It costs $12,690.00 to publish open access at Nature.

They are literally uploading a PDF file.

[PGC Consortium @PGCgenetics]

To celebrate #InternationalWomensDay2025 @DrNiamhRyan and @JMK_Yang have been contacting some of the incredible #WomeninSTEM working in the PGC! Stay tuned as we hear about their research, goals and some of the women who have supported their journeys. #WomenSupportingWomen

[PGC Consortium @PGCgenetics]

1/ The postpartum period is a time of significant risk for psychiatric disorders for women yet we still know little about postpartum psychosis—Is it bipolar disorder triggered by childbirth, or something distinct? 🤔
A recent paper suggests PP has a unique genetic profile. 🧬🧠

[PGC Consortium @PGCgenetics]

1/ Did you know that the years around the final menstrual period (perimenopause) are linked to a higher risk of developing psychiatric disorders?

[Jonathan Sebat @sebatlab]

As we speak, scientisists across the country (including myself) are trying to to take care of simple administrative tasks related to the grants that we have recieved from the National Institutes of Health... 1/n

[Adhmhaidin @Adhmhaidin]

Scaití, ní bhíonn na muilte gaoithe féin in ann ag an stoirm...tuirbínbar an gCnoc in Indreabhán inniu #eowyn

[Lluis Montoliu @LluisMontoliu]

In 2018 the irresponsible experiments done by He Jiankui showed the world why it was a bad idea editing one gene on human embryos. Now, a team of Australian scientists led by P. Visscher and J. Savulescu speculates in @Nature on heritable polygenic editing
https://t.co/bJ2StuLWp2

[Veera Rajagopal  @doctorveera]

Wow! Peter Visscher and colleagues have published a provocative paper in Nature speculating that "polygenic gene editing" of embryos might prove effective in reducing disease risk, should the technology advance enough to become safe in the future.

The authors argue that for polygenic diseases like type 2 diabetes or schizophrenia, theoretically, editing only a handful of variants might produce dramatic reduction in the disease prevalence among the edited embryos. And this approach will prove more effective than embryo screening. Of course, the authors have acknowledged that this is speculative and discussed all the challenges and ethical issues associated with embryo gene editing.

Further, Nature has thoughtfully published a well-balanced News and Views titled "Human embryo editing against disease is unsafe and unproven — despite rosy predictions" by experts in this topic (@ShaiCarmi @WiringTheBrain and @HankGreelyLSJU) arguing that though theoretically possible the idea might never work.

Visscher et al. Nature
https://t.co/iTe4URlJLU

[Massimo @Rainmaker1973]

Fun math facts.

45² = 45 × 45 = 2025.

9² × 5² = 2025

40² + 20² + 5² = 2025

1³ + 2³ + 3³ + 4³ + 5³ + 6³ + 7³ + 8³ + 9³ = 2025

[Adam Kay @amateuradam]

Genuinely unbelievable - “We’ve totally stopped taking referrals and if you’re already on the waiting list it’ll be 18 years soz”

[James Tanton @jamestanton]

For each point Q on Earth:

T(Q)=air temp,
P(Q)=air pressure
Q* = antipodal point to Q.
F(Q) = ( T(Q) - T(Q*), P(Q) - P(Q*) ).

Must there be a point with F(Q) = (0,0)? Why?
(Assume continuity.)

Have we an intuitive argument for Borsuk-Ulam Theorem?

[Ireland Votes @Ireland_Votes]

SEAT PROJECTIONS BASED ON EXIT POLL:

SF: 41 [40-45]
FG: 39 [39-46]
FF: 35 [31-37]
SD: 9 [3-12]
LAB: 7 [4-12]
PBP-S: 5 [2-7]
AON: 4 [1-6]
GP: 4 [0-5]
Others: 29 [25-30]

@Ireland_Votes Projections based on RTÉ/TG4/Irish Times/Trinity/Ipsos B&A Exit Poll

#GE24

[PGC Consortium @PGCgenetics]

Welcome to Week 2 of the Pedigree Sequencing Group’s takeover of @PGCgenetics account!
This week we’ll discuss new tools and new findings from family sequencing studies.
#psychiatry #genetics #genomics #sequencingstudies

[PGC Consortium @PGCgenetics]

Rare copy number variants (CNVs) have been implicated in many psychiatric disorders, but identifying CNVs can be challenging.​ PECAN is designed for WGS data, combining four calling methods, structural variant genotyping and pedigree information.
https://t.co/zm1s121p30

[PGC Consortium @PGCgenetics]

Family studies can identify rare genetic variants using much smaller numbers than case-control studies. See this pedigree study which identified a missense variant in ATP2B2 – a gene previously associated with bipolar disorder, schizophrenia & autism.
https://t.co/QPOWoMv2NR

[PGC Consortium @PGCgenetics]

Identifying plausible disease-causing variants from pedigree WGS data, within a robust statistical framework is challenging. Introducing BICEP: a Bayesian inference tool for rare variant causality evaluation in pedigree-based cohorts. Publication imminent!
https://t.co/viY01aiR3Y

[TheJournal.ie @thejournal_ie]

Gardaí are asking for the public's help to locate 16-year-old Daniel Lynch who is missing from his home in Cabra, Dublin 7