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How does the predictive value of genetic information vary across different ages? Jiang et al. Xilin Jiang Chris Holmes @gil_mcvean show that #genetics tend to have a stronger impact on the risk of common diseases for younger populations doi.org/10.1371/journa…

Interesting study:"many genes routinely tested within pediatric genetics have deleterious variants with intermediate penetrance that may cause lifelong sub-clinical phenotypes in the general adult population" cell.com/ajhg/fulltext/…

ashg.org/publications-n…

Thanks Neerja karnani for the shipment of 102 vials of MSCs! We look forward to working with our outstanding Singaporean colleagues to help improve health in the diverse ethnicities of the country. David Yang is going to be a busy guy…

The Southern Arc papers are now published in Science Magazine The study was originally conceived as the joint genetic history of the neighboring regions of West Asia and Southeastern Europe but there were just too many interesting findings to fit in one paper, so we have three!

Gil Mcvean on the interpretation of PCA applied to population genetics data journals.plos.org/plosgenetics/a…

Glad to represent Albert Einstein College of Medicine - Official at #NYSCF2022!

Using co-occurrence of hundreds of diseases to identify disease subtypes. With @gil_mcvean, Alkes Price, Chris Holmes, and @minouye271

Every time I listen to a talk about Human Heredity and Health in Africa and by African scientists I feel happy about what they have accomplished and reaffirm my belief that we need this type of initiatives in other regions to achieve #GenomicsEquity around the world🌎. We need #H3LATAM! #ASHG22

It was great to see so many friends at #ASHG22. There was also plenty of exciting research. At the same time, I left the conference with some concerns (thread)

What do polygenic risk scores (PRS) add to the seemingly simple question about family history (FH)? We explored the interplay of PRS and FH in over 20 common diseases, showing that they have little overlap and provide complementary information. Link: bit.ly/fhprs

Out in Nature Communications: nature.com/articles/s4146… We (1) present a detailed history of recent admixture and drift of Helicobacter pylori in Europe and the Middle East, including at least three separate introgressions of substantial genetic material from Africa.

Great to see wonderful stories about female geneticists around the world starting to be told to a modern audience. yahoo.com/news/ek-janaki…

From @_jjdubs Sri Raj and David A Knowles (@davidaknowles.bsky.social), now available as open access: Using epigenomics to understand cellular responses to environmental influences in diseases journals.plos.org/plosgenetics/a… #epigenetics #epigenomics #environment NY Genome Center Columbia Medicine Albert Einstein College of Medicine - Official Montefiore Health System

Looking for an easily accessible diverse set of genomes? We've got you! The HGDP+1kGP genomes have been jointly called and QC'd as part of gnomAD, complete with SNVs, indels, and SVs: biorxiv.org/content/10.110…. Fully public resource, tutorials included, feedback welcome!

rest in peace, Dominic. My undergraduate mentor who was an instrumental advocate in my career, and made deep strides in malaria research: theguardian.com/world/2023/may…

Massive new Genome Aggregation Database release (v4) spanning exome/genome data from *over 800,000 individuals*. Huge congratulations to the entire gnomAD production team for their incredible work getting this over the line! A total game-changer for rare variant interpretation.

Andrew Marderstein presenting how Trisomy 21 reshapes enhancer-gene maps and regulation to influence cellular phenotypes. Used scATAC-seq to identify enhancer-gene correlations in Ts21 cells, greater number of enhancer-gene links but distributed across the genome #ASHG23 #ASHG2023

Great to be at #ASHG2023! Check out our poster PB3100 that my postdoc Mariko Isshiki is presenting today - and won a Reviewers Choice award!

Want to share the first two preprints from our group, which support genomic medicine for all New Yorkers. John Greally EinsteinGenetics authorea.com/users/832478/a… medrxiv.org/content/10.110…