Hilary Martin (@hilsomartin) 's Twitter Profile
Hilary Martin

@hilsomartin

Group Leader in Human Genetics at the Wellcome Sanger Institute. College Research Associate at St John's College, Cambridge.

ID: 280447822

linkhttp://www.sanger.ac.uk/people/directory/martin-hilary calendar_today11-04-2011 10:25:13

294 Tweet

2,2K Followers

362 Following

Genetics in Medicine (@gimjournal) 's Twitter Profile Photo

Look beyond exons! Non-coding variants in introns, UTRs, promoters & enhancers in trans with pathogenic coding variants bring answers in undiagnosed recessive developmental disorders bit.ly/3XWxxyf Nicky Whiffin Diana Baralle Hilary Martin Jenny Lord

Look beyond exons! Non-coding variants in introns, UTRs, promoters &amp; enhancers in trans with pathogenic coding variants bring answers in undiagnosed recessive developmental disorders bit.ly/3XWxxyf <a href="/nickywhiffin/">Nicky Whiffin</a> <a href="/ProfDBaralle/">Diana Baralle</a> <a href="/hilsomartin/">Hilary Martin</a> <a href="/DrJennyLord/">Jenny Lord</a>
Hilary Martin (@hilsomartin) 's Twitter Profile Photo

I had fun contributing (in a minor way) to this perspectives piece on the importance of family-based biobanks led by @nm_davies and Matt Keller . Important message for funders and those in a position to influence the next generation of big genetic studies.

Raheleh Rahbari (@r_rahbari) 's Twitter Profile Photo

My old account has disappeared, and I'm not sure why. I’m hoping to recover it somehow or link it to my new one! Thank you to everyone for reconnecting!

Matthew Neville (@mdc_neville) 's Twitter Profile Photo

Excited to share our new preprint in which we address: (1) Accurate sequencing of sperm at scale (2) Positive selection of spermatogenesis driver mutations across the exome (3) Offspring disease risks from male reproductive aging [1/15] medrxiv.org/content/10.110…

Inigo Martincorena (@imartincorena) 's Twitter Profile Photo

Excited to share our latest work. We introduce an improved version of NanoSeq, a duplex sequencing protocol with <5 errors per billion bp in single DNA molecules, and use it to study the somatic mutation landscape of oral epithelium in >1000 people. 1/n medrxiv.org/content/10.110…

Emilie Wigdor (@emiliewigdor) 's Twitter Profile Photo

📣Big news! Our tag-team effort on common variants in rare neurodevelopmental conditions is now out in nature! 📣 Co-first authoring with the brilliant Qinqin Huang🌟—proof that teamwork does make the dream work. 💪 nature.com/articles/s4158…

Wellcome Sanger Institute (@sangerinstitute) 's Twitter Profile Photo

Large-scale genetic analysis has uncovered new insights into how common DNA differences play a role in the development of rare brain conditions. In the future, the findings may help families and doctors better understand and manage these conditions. sanger.ac.uk/news_item/new-…

Veera Rajagopal  (@doctorveera) 's Twitter Profile Photo

Comparison of pathway-specific polygenic risk score for type 2 diabetes between Europeans (purple) vs South Asians (green; Pakistanis & Bangladeshis). While obesity risk variants are enriched in Europeans, lipodystrophy risk variants are enriched in South Asians, explaining the

Comparison of pathway-specific polygenic risk score for  type 2 diabetes between Europeans (purple) vs South Asians (green; Pakistanis &amp; Bangladeshis). While obesity risk variants are enriched in Europeans, lipodystrophy risk variants are enriched in South Asians, explaining the
Fartein Ask Torvik (@farteinask) 's Twitter Profile Photo

(1/10) Check out our new paper in Nature Communications! “Non-random mating patterns within and across education and mental and somatic health”. In the paper, we study partner similarities before they (were likely to have) met. nature.com/articles/s4146…

Genomics England (@genomicsengland) 's Twitter Profile Photo

Exciting leadership news for the Participant Panel! We welcome Kirsty Irvine as the new Chair of the Panel, working alongside Vice-Chairs Helen White and Adam Clatworthy. Together, they’ll amplify participants' voices in genomic research 🧬 Read more: ow.ly/gmOQ50Ulwxs

Exciting leadership news for the Participant Panel!

We welcome Kirsty Irvine as the new Chair of the Panel, working alongside Vice-Chairs Helen White and Adam Clatworthy. Together, they’ll amplify participants' voices in genomic research 🧬

Read more: ow.ly/gmOQ50Ulwxs
Loïc Yengo (@loicyengo) 's Twitter Profile Photo

My lab and that of Jian Zeng are recruiting postocs to work on various stat gen projects. There are 3 positions advertised. Please check them out and share within your networks. Thanks! nature.com/naturecareers/… Closing Date is Feb 28, 2025.

Wellcome Sanger Institute (@sangerinstitute) 's Twitter Profile Photo

DNA sequencing data for over 37,000 children and parents is now available to researchers worldwide 🧬 Collected over multiple decades, these data can be combined with existing health information provided by participating families. Read more ⤵️ sanger.ac.uk/news_item/larg…

DNA sequencing data for over 37,000 children and parents is now available to researchers worldwide 🧬

Collected over multiple decades, these data can be combined with existing health information provided by participating families. 
Read more ⤵️

sanger.ac.uk/news_item/larg…
Hilary Martin (@hilsomartin) 's Twitter Profile Photo

The deadline for signing up for Genomics of Rare Disease is 11 March - join us! I'll be presenting insights into the genetics of rare neurodevelopmental conditions from population-based cohorts (UK Biobank + birth cohorts). Great international speaker line-up.

Alex Strudwick Young (@alextisyoung) 's Twitter Profile Photo

I am recruiting a quantitative/computational postdoc to my group at UCLA. This is a great opportunity to work on foundational theory, methods, and software in statistical genetics. Link to apply below. Please repost!

I am recruiting a quantitative/computational postdoc to my group at UCLA. This is a great opportunity to work on foundational theory, methods, and software in statistical genetics. Link to apply below. Please repost!
Hilary Martin (@hilsomartin) 's Twitter Profile Photo

Proud of my (recently graduate) student Teng Hiang for her first PhD paper, out today in AJHG . She studied recessive effects across diseases in ~44k British South Asians from the @GenesHealth and found 185 independent hits, >40% of which are novel cell.com/ajhg/pdfExtend….