Pilar Alvarez Jerez

PhD Student NIH/UCL 🧬 Long-read technologies for structural variation

[Christos Proukakis @proukakis]

Delighted to comment on the paper explaining the role of a new GBA variant in Parkinson's risk in Africa in Nature Structural and Molecular Biology by @pilaralvjer https://t.co/PlEKK7SF4Q

[Pilar Alvarez Jerez @pilaralvjer]

Proud of the team!

[Kimberley Billingsley @KimberleyBill10]

1/ 🧵 So excited to finally share our preprint! Long-read sequencing of hundreds of diverse brains provides insight into the impact of structural variation (SV) on gene expression and DNA methylation- A new genomic resource for brain research! 🧠✨https://t.co/vYcbGIJWXU

[Pilar Alvarez Jerez @pilaralvjer]

Out now! Excited to share and grateful for all the work and collaboration on this one. 🎉

[The Science of Parkinson's @ScienceofPD]

New paper from @pilaralvjer @cornelisblauw & GP2 colleagues reports the functional effect of the African ancestry-specific GBA1 non-coding #Parkinsons risk variant; It interfers with splicing of functional GBA1 transcripts; =⬇️protein &⬇️GCase activity
https://t.co/MVQRa1V8iU

[Zhongbo Chen @ZhongboC]

Collaborating with colleagues from Sweden (https://t.co/xiVO9w52To) & leveraging @nanopore targeted #longreadsequencing, we showed that the #SCA4 GGC repeat expansion haplotype arose from a common founder ~2,000 years ago https://t.co/2v6CqLqz43. @LRS_UCL

[Sina Majidian @SinaMajidian]

The @GenomeInABottle genomic stratifications resource is published in @NatureComms: https://t.co/Ar1Dx3I1yK
Stratifications reveal key insights into precision and recall of variant calling across different genomic contexts! Great team work by Nate Dwarshuis, Justin Zook & others

[Kimberley Billingsley @KimberleyBill10]

Great overview of our CARD long-read project! We’re sequencing thousands of human brains to better understand the genetics of ADRDs across diverse populations 🧬🧠 🌎 This wouldn’t be possible without our amazing sequencing dream team 😎 Big data release coming soon!

[ConceiçãoBettencourt @saobettencourt]

Join our @DEMONNetworkUK #Genetics and #Omics meeting on THURSDAY 12th September @ 2.30 PM (UK Time). Delighted to have @pilaralvjer as invited speaker – “African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1”
Join network or DM for more info

[Pilar Alvarez Jerez @pilaralvjer]

Proud of these guys ✨

[Kimberley Billingsley @KimberleyBill10]

Trying to do @nanopore Long-read sequencing and only have old DNA samples available? Check out our new protocol aimed at getting the best N50s and coverage possible for that input 🧬 (Note: HMW extractions from tissue always preferred) feedback welcome https://t.co/QYl7RkvuEl

[The Science of Parkinson's @ScienceofPD]

New paper from @pilaralvjer @KimberleyBill10 et al investigates prevalence of RFC1 (AAGGG) expansions in #Parkinsons patients of non-Finnish European ancestry in 1609 cases from the @MichaelJFoxOrg PPMI study; 4 PD = biallelic RFC1 expansion (controls=0)
https://t.co/Xjj0JpvFLh

[Pilar Alvarez Jerez @pilaralvjer]

Other authors on this platform include: @em_ka_gu, @mbmakarious, @KimberleyBill10, @kendaida, @huwmorris, @HamptonLLeonard, @mike_nalls, @sarabandres1, @EstebanBurchard, @Linda_Kachuri, @SingletonNeuro, @Michael_E_Ward_. Plus many others who are not on the socials!

[Pilar Alvarez Jerez @pilaralvjer]

This is a follow up to the PD African GWAS (https://t.co/42aYTq7kvz) where a non-coding intronic GBA1 variant (rs3115534-G) was found to be carried by ~50% of West African PD cases and imparts a dose-dependent increase in risk for disease.

[Pilar Alvarez Jerez @pilaralvjer]

Lastly, a huge thank you to everyone that participated in this work, especially @peter_wc and @cornelisblauw as well as GP2 ( @ASAP_research) and the team at the University of Lagos!