Joel Hirschhorn
@joelhirschhorn
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Human geneticist and pediatric endocrinologist at Boston Children's Hospital, Broad Institute, and Harvard Medical School.
Joined November 2012
Next challenges: rarer variants, further increasing non-European ancestry samples, fine mapping in large transancestry samples, pinpointing effector genes, elements and variants to get at mechanisms, and testing utility of polygenic scores to evaluate children with short stature.
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@Nature @LoicYengo @23andMe With key contributions from >200 cohorts and >600 investigators from GIANT, and lead authors @LoicYengo, Sailaja Vedantam, @MarouliEirini, @drarwood, @okada_yukinori, and Peter Visscher.
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Excited to share the release of our GIANT consortium height GWAS paper in @Nature today! Great thread from @LoicYengo with key findings quoted below; we map ~all regions with common height variants. Sample size >5M, >1M with non-European ancestry with contributions from @23andMe.
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Fine mapping across ancestries esp. when multiple signals cluster, more definitive identification of causal genes and mechanisms, rare variants, larger non-European ancestry sample sizes to improve prediction and fine mapping, and exploration of clinical utility of prediction.
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account for ~100% of common variant-attributable heritability in European-ancestry individuals, and show that association data that implicates causal genes and broad-stroke gene sets/pathways is likely saturated (at least with current methods/ancillary data). Future work to do:
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especially Loic Yengo, Sailaja Vedantam, @MarouliEirini, Yuki Okada, Andy Wood and Peter Visscher, and many others. It’s the largest GWAS so far, with >1M individuals with non-European ancestry. We map >90% of common variant-heritability to ~21% of the genome across ancestries,
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Excited that the GIANT consortium height GWAS: A Saturated Map of Common Genetic Variants Associated with Human Height from 5.4 Million Individuals of Diverse Ancestries https://t.co/U0Scz1n7Nj is on biorxiv! Great effort from 100s of investigators and GIANT height working group,
biorxiv.org
Common SNPs are predicted to collectively explain 40-50% of phenotypic variation in human height, but identifying the specific variants and associated regions requires huge sample sizes. Here we...
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What a lovely acceptance speech by @ceclindgren and congratulations for your well deserved mentorship award at #ASHG18!
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Honored to have been chosen to be the next chief of the Endocrinology Division at @BostonChildrens and to be following the amazing Joe Majzoub
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Had a good time volunteering with the family and being with a few fellow Bostonians at #bostonmarchforscience
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#GIANTconsortium exome chip paper is online at @nature! 83 rare/low frequency coding variants that alter height
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