New York, NY
Joined July 2013
At long last, I am pleased to say that the SCHEMA consortium’s paper has been published online in @Nature (nature.com/articles/s41586-0…): analysis of >120K individuals shows that rare coding variants in 10 genes confer substantial risk for schizophrenia. (1/6)
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By combining data from full-body x-ray images and associated genomic data from more than 30,000 UK Biobank participants, researchers have provided new insights into the evolution of the human skeletal form. Learn more this week in Science: scim.ag/3qw
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Humans are the only bipedal great apes, due to the evolution of our unique skeletal form. What genomic regions underlie such change? Our cover article in @sciencemagazine led by @EucharistKun and in collab. with @tarjs is now out! science.org/doi/10.1126/scie… xitter.cf/ScienceMagazine/status…
By combining data from full-body x-ray images and associated genomic data from more than 30,000 UK Biobank participants, researchers have provided new insights into the evolution of the human skeletal form. Learn more this week in Science: scim.ag/3qw
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Humans are the only bipedal great apes, due to our unique skeletal form. What genomic regions contributed to such change? Our work, combining imaging, genetic & EHR data to understand the genetic architecture and evolution of the human skeletal form is up: biorxiv.org/content/10.1101/…
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1/12 Very pleased to finally share the @PGC Schizophrenia Group paper: Mapping genomic loci implicates genes and synaptic biology in schizophrenia disq.us/t/46oo9bv (my first proper thread!!)
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TJ Singh retweeted
Rare coding variants in ten genes confer substantial risk for schizophrenia - Nature go.nature.com/3NRbyTv
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TJ Singh retweeted
Mapping genomic loci implicates genes and synaptic biology in schizophrenia - Nature go.nature.com/3v1DBXz
Scientists at the @broadinstitute discovered 10 rare genetic variants that increase a person's risk of schizophrenia up to 50 fold. A study from @PGCgenetics identifies 287 common variants with small effects. Will guide future research and drug discovery. bostonglobe.com/2022/04/06/b…
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Crucial to this effort is the leadership and guidance of @dalygene, @bmneale, amazing SCHEMA collaborators (schema.broadinstitute.org/ab…), @PGCgenetics, generous support from the @NIH, @NIMHgov, @StanleyCenter, tools built by the @broadinstitute, @hailgenetics, and @gatk_dev. (5/6)
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Finally, we would like to thank the tens of thousands of patients and families for their participation, without whom research efforts such as this are not possible. (6/6)
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Really happy to see the paired PGC & SCHEMA papers on medRxiv - great efforts by so many working together to advance schizophrenia genetic discovery!! Comments welcome!! PGC (GWAS): medrxiv.org/content/10.1101/… SCHEMA (exomes): medrxiv.org/content/10.1101/…
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On behalf of the SCHEMA consortium, I am excited to present our analysis of sequencing data from 24,248 cases and 97,322 controls in which we pinpoint ultra-rare protein-coding variants in ten genes as conferring substantial risk for schizophrenia. (1/6) medrxiv.org/content/10.1101/…
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Crucial to this effort is the leadership and guidance of @dalygene, @bmneale, countless collaborators in the consortium, generous support from the @NIH, @NIMHgov, @StanleyCenter, and tools built by the @broadinstitute, @hailgenetics, and @gatk_dev. (5/6)
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Finally, we would like to thank the tens of thousands of patients and families for their participation, without whom research efforts such as this is not possible. (6/6)
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