ASHG's Open Access journal
https://www.cell.com/hgg-advances/home
Human Genetics and Genomics Advances
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Don't miss out on TODAY's journal club
Noon Eastern--be there!
🧬New from Ramkhalawan et al!
📄Integrated Transcriptomic and Functional Analysis Reveals Tissue-Specific Molecular Pathology in Adolescent Idiopathic Scoliosis
👉 bit.ly/4vyPjqj
🧬New from Chen et al!
📄Functional genomic analysis reveals HAVCR1 as the key regulator of 5q33.3 locus linked to hyperlipidemia
👉 bit.ly/4veBTzH
Human Genetics and Genomics Advances
PaperCast S2E375: Biallelic DSCAM loss causes a recessive neurodevelopmental syndrome with nystagmus and cone-pathway retinal dysfunction. Listen now
https://basebybase.com/episodes/biallelic-dscam-neurodevelopmental-nystagmus
@hggadvances.bsky.social
Human Genetics and Genomics Advances
Human Genetics and Genomics Advances
Using 243 primate whole genomes, @hggadvances.bsky.social's latest article identifies over 8K brain-active elements that show human-specific positive selection, shape gene expression differences, & are enriched for neuropsychiatric disorders: https://bit.ly/4f4hl8e #ASHG #HumanGenetics
Base by Base
2 dates. 2 expert sessions. 1 smart move—register for both!
May 27: Industry Pathways in Genetics and Genomic Science (co-hosted w/ @eshg.bsky.social)
June 10: RNUopathies: A New Frontier in Genetics (Journal Club w/ @hggadvances.bsky.social)
👉 Join us: https://learning.ashg.org/ #ASHG
@hggadvances.bsky.social sat with @adel-aide.bsky.social, in the latest "Inside HGG Advances" to discuss her paper, “Using a modular massively parallel reporter assay to discover context-dependent regulatory activity in type 2 diabetes-linked noncoding regions.“➡️ https://bit.ly/4wVlx0o #ASHG
ASHG is excited to announce Charles Lee as the new Editor-in-Chief of @hggadvances.bsky.social! He brings exceptional scientific leadership, editorial expertise, and a deep commitment to advancing human genetics and genomics.
Join us in congratulating Dr. Lee!
Read more: https://bit.ly/4uHdOSa
By integrating genetics and functional assays, @hggadvances.bsky.social's latest study identifies HAVCR1 as the effector gene at the hyperlipidemia-associated 5q33.3 locus, revealing how multiple regulatory mechanisms can converge on a single GWAS locus: https://bit.ly/4a9keBh #ASHG #HumanGenetics
@hggadvances.bsky.social's latest article presents a multiomic study of idiopathic scoliosis that helps to elucidate disease mechanisms & enable therapeutic and biomarker development: https://bit.ly/3QpfUaq #ASHG #HumanGenetics #GeneticsDiscoveries
American Society of Human Genetics (ASHG)
American Society of Human Genetics (ASHG)
American Society of Human Genetics (ASHG)
American Society of Human Genetics (ASHG)
American Society of Human Genetics (ASHG)
American Society of Human Genetics (ASHG)
Each month, the editors of Human Genetics and Genomics Advances interview researchers who have published work in the journal. This month, we check in with Adelaide Tovar to discuss her paper "Using a ...
Have questions about RNUopathies & how RNU6ATAC was identified as a disease-associated gene? Join tomorrow's Journal Club webinar & get the answers directly from @hggadvances.bsky.social author Hector Rodrigo Mendez, MD: https://learning.ashg.org/products/rnuopathies-a-new-frontier-in-genetics #ASHG
