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Human Genetics and Genomics Advances @hggadvances.bsky.social · 1d

📣New from Chow et al!
📄Colon Cancer in Appalachian Kentucky: Unique Genetic, Microbiome and Obesity Findings in a Cohort Comparison
👉http://bit.ly/4odgp2J

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Human Genetics and Genomics Advances @hggadvances.bsky.social · 2d

📣New Brief Communication from Harms et al!
📄A de novo frameshift variant in the candidate RBM15 in a proband with congenital mirror movements
👉http://bit.ly/3VS1Ntn

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Reposted by Human Genetics and Genomics Advances

Gen Wojcik @genandgenes.bsky.social · 2d

Whoops, wrong hashtag.

If you are going to #ASHG25, check out the line-up!

This is perfect if you are a trainee who needs to network but has no idea how to do it. Instead of trying to corner someone at the posters (which is stressful!), schedule a slot and sit down for 15 minutes to chat!

Gen Wojcik @genandgenes.bsky.social · 2d

Are you going to #ASHG2025 next week in Boston? Interested in getting some mentorship from leading figures in the field (and me)?

Check out our speed mentoring event on Thursday! Sign-ups are online so reserve a spot ASAP.

site.pheedloop.com/event/ASHG25...

PheedLoop

PheedLoop: Hybrid, In-Person & Virtual Event Software

site.pheedloop.com

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Reposted by Human Genetics and Genomics Advances

American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 5d

To identify carriers of C9orf72 repeat expansion alleles, a major cause of ALS and FTD, the authors of the latest @hggadvances.bsky.social article developed a LASSO-based genome-wide DNA methylation predictor. Learn more: www.cell.com/hgg-advances... #ASHG #HumanGenetics #GeneticsDiscoveries

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Reposted by Human Genetics and Genomics Advances

Stefan Barakat @stefanbarakat.bsky.social · 3d

New paper from us in Rotterdam:
"Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndrome"

www.sciencedirect.com/science/arti...

@hggadvances.bsky.social , Federico Ferraro, Tjakko van Ham, Marieke van Dooren and others #lrWGS

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Reposted by Human Genetics and Genomics Advances

Stefan Barakat @stefanbarakat.bsky.social · 3d

new recent publication from us in Rotterdam on RNA analysis for rare disease diagnostics #genetics #RNA #raredisease @hggadvances.bsky.social @erasmusmc.bsky.social

Human Genetics and Genomics Advances @hggadvances.bsky.social · 15d

🚨Online now!
📄Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools
👉https://tinyurl.com/4wvwf7yy

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Reposted by Human Genetics and Genomics Advances

Xilma Ortiz-Gonzalez MD PhD @drxilma.bsky.social · 7d

Congrats @pennngg.bsky.social students Briana and Leonardo! we were happy to collaborate on defining this novel human disease association for BCAT1

Human Genetics and Genomics Advances @hggadvances.bsky.social · 7d

📣New from DiSanza et al!
📄Biallelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder
👉https://bit.ly/4mGchH5

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Human Genetics and Genomics Advances @hggadvances.bsky.social · 7d

📣New from DiSanza et al!
📄Biallelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder
👉https://bit.ly/4mGchH5

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Human Genetics and Genomics Advances @hggadvances.bsky.social · 9d

📣New from Ophoff & colleagues!
📄Accurate DNA #Methylation Predictor for C9orf72 Repeat Expansion Alleles in the Pathogenic Range

Accurate DNA Methylation Predictor for C9orf72 Repeat Expansion Alleles in the Pathogenic Range

Ramesh et al. developed a robust DNA methylation–based predictor to identify C9orf72 repeat expansion carriers, a major cause of ALS and FTD. The array-based DNAm predictor was independently validated...

tinyurl.com

Human Genetics and Genomics Advances @hggadvances.bsky.social · 9d

📣New from Ferraro et al!
📄Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndrome
👉 tinyurl.com/59puc9km

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Human Genetics and Genomics Advances @hggadvances.bsky.social · 9d

📣New from Sherman et al!
📄Researcher Attitudes towards Hypothetical Genetic Research with Navajo People: Results from an Online Survey
👉 tinyurl.com/3nr4rm3y

Reposted by Human Genetics and Genomics Advances

American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 12d

Experimental analysis of pre-mRNA splicing is a valuable tool in reclassifying variants of uncertain significance. @hggadvances.bsky.social latest article assesses the limitations of in silico mRNA splicing prediction tools: bit.ly/4pCGyt4 #ASHG #HumanGenetics #GeneticsDiscoveries #GeneticsEducation

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Human Genetics and Genomics Advances @hggadvances.bsky.social · 15d

🚨Online now!
📄Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools
👉https://tinyurl.com/4wvwf7yy

Human Genetics and Genomics Advances @hggadvances.bsky.social · 15d

📣New from Hsiung et al!
📄 #GWAS Reveals Genetic Mechanisms underlie Eye Disorders and Comorbidities
👉https://tinyurl.com/24hcecup

Human Genetics and Genomics Advances @hggadvances.bsky.social · 15d

📣New from @sequenceman.bsky.social & co
📄Asparaginyl-tRNA synthetase (NARS1) variants implicated in dominant neurological phenotypes display dominant-negative properties
👉https://tinyurl.com/mwc5vfb4

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Human Genetics and Genomics Advances @hggadvances.bsky.social · 15d

📣New from Rushforth et al!
📄Biallelic INTU variants define a #ciliopathy disorder characterized by orofacial, digital and cardiac anomalies
👉https://bit.ly/3Kab6T1

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Human Genetics and Genomics Advances @hggadvances.bsky.social · 15d

📣New from Ganesh et al!
📄The Karnataka Individual Genome Project expands the human reference landscape to include South Asia
👉https://bit.ly/4mrU405

Human Genetics and Genomics Advances @hggadvances.bsky.social · 15d

📣New from Tomar & co!
📄Aberrant N-glycosylation may be a therapeutic target in carriers of a common and highly pleiotropic variant in the manganese transporter ZIP8
👉 bit.ly/4mufLws

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Reposted by Human Genetics and Genomics Advances

Arun Durvasula @arundurvasula.bsky.social · 26d

Our work on leveraging pathway-specific polygenic scores to discover gene-environment interactions is now online at HGG Advances (@hggadvances.bsky.social). 10/10 great review process!

www.cell.com/hgg-advances...
cc @kewesterman.bsky.social

Pathway-specific polygenic scores substantially increase the discovery of gene-adiposity interactions impacting liver biomarkers

The authors describe a strategy for using pathway-specific polygenic scores to increase the detection and interpretability of gene-environment interactions, with an applied analysis uncovering genetic...

www.cell.com

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Human Genetics and Genomics Advances @hggadvances.bsky.social · 26d

📣Online now from @arundurvasula.bsky.social & co!
📄Pathway-specific polygenic scores substantially increase the discovery of gene-adiposity interactions impacting liver biomarkers
👉https://bit.ly/47HmkYW

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Human Genetics and Genomics Advances @hggadvances.bsky.social · 27d

Thanks to Associate Editor Heather Wheeler for sharing her experience as an @hggadvances.bsky.social author!

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Human Genetics and Genomics Advances @hggadvances.bsky.social · 28d

📣New from Park & Ray!
📄A robust pleiotropy method with applications to lipid traits and to inflammatory bowel disease subtypes with sample overlap
👉https://bit.ly/3JV3Yty

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Human Genetics and Genomics Advances @hggadvances.bsky.social · 28d

📣Online now from Epting et al!
📄PATJ deficiency leads to cystic kidney disease and related ciliopathies
👉http://bit.ly/45WOHAW

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Human Genetics and Genomics Advances @hggadvances.bsky.social · Sep 4

📣New from Levey et al!
📄Genetics of SSRI Antidepressant Use and Relationship to Psychiatric and Medical Traits
👉http://bit.ly/4nbNICz

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Human Genetics and Genomics Advances @hggadvances.bsky.social · Sep 2

📣New from Li et al!
📄Whole genome sequence-based association analysis of African American individuals with bipolar disorder and schizophrenia
👉http://bit.ly/4lWks1M

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