Human Genetics and Genomics Advances
@hggadvances.bsky.social
ASHG's Open Access journal
https://www.cell.com/hgg-advances/home
https://www.cell.com/hgg-advances/home
📣New from Hao et al!
📄Clinical significance of regions of homozygosity detection in prenatal chromosomal microarray analysis
👉 bit.ly/4rbDbdu
📄Clinical significance of regions of homozygosity detection in prenatal chromosomal microarray analysis
👉 bit.ly/4rbDbdu
November 21, 2025 at 5:36 PM
📣New from Hao et al!
📄Clinical significance of regions of homozygosity detection in prenatal chromosomal microarray analysis
👉 bit.ly/4rbDbdu
📄Clinical significance of regions of homozygosity detection in prenatal chromosomal microarray analysis
👉 bit.ly/4rbDbdu
Reposted by Human Genetics and Genomics Advances
Fragmented infrastructure & biospecimen scarcity stunt progress in rare disease research. @hggadvances.bsky.social latest article presents a digital platform that standardizes biospecimen protocols & enables ethical data/specimen sharing: www.cell.com/hgg-advances... #ASHG
A National Biobank Framework for Rare Diseases: Standardized Infrastructure and Cross-Institutional Collaboration Accelerating Translational Innovation in China
This study presents a national framework for a rare disease biobank in China, integrating
446 institutions through standardized infrastructure and secure data sharing. Uniting
clinical, molecular, and...
www.cell.com
November 20, 2025 at 2:39 PM
Fragmented infrastructure & biospecimen scarcity stunt progress in rare disease research. @hggadvances.bsky.social latest article presents a digital platform that standardizes biospecimen protocols & enables ethical data/specimen sharing: www.cell.com/hgg-advances... #ASHG
📣New from @robbeewedow.bsky.social & co!
📄How and for whom can genetics education reduce beliefs in genetic essentialism?
🧬🏫
👉 bit.ly/4pk3axv
📄How and for whom can genetics education reduce beliefs in genetic essentialism?
🧬🏫
👉 bit.ly/4pk3axv
November 21, 2025 at 5:34 PM
📣New from @robbeewedow.bsky.social & co!
📄How and for whom can genetics education reduce beliefs in genetic essentialism?
🧬🏫
👉 bit.ly/4pk3axv
📄How and for whom can genetics education reduce beliefs in genetic essentialism?
🧬🏫
👉 bit.ly/4pk3axv
📣New from @galenwright.bsky.social & co!
📄Unbiased human genomic characterization of polyglutamine disorder genes to guide biological understanding and therapeutic strategies
👉 bit.ly/3X2UlfD
📄Unbiased human genomic characterization of polyglutamine disorder genes to guide biological understanding and therapeutic strategies
👉 bit.ly/3X2UlfD
November 17, 2025 at 3:26 PM
📣New from @galenwright.bsky.social & co!
📄Unbiased human genomic characterization of polyglutamine disorder genes to guide biological understanding and therapeutic strategies
👉 bit.ly/3X2UlfD
📄Unbiased human genomic characterization of polyglutamine disorder genes to guide biological understanding and therapeutic strategies
👉 bit.ly/3X2UlfD
📣 New from Workalemahu et al.
📄 Inherited Genetic Risk in Stillbirth: A Shared Genomic Segments Analysis of High-Risk Pedigrees
👉https://bit.ly/43ubMJz
📄 Inherited Genetic Risk in Stillbirth: A Shared Genomic Segments Analysis of High-Risk Pedigrees
👉https://bit.ly/43ubMJz
November 12, 2025 at 5:39 PM
📣 New from Workalemahu et al.
📄 Inherited Genetic Risk in Stillbirth: A Shared Genomic Segments Analysis of High-Risk Pedigrees
👉https://bit.ly/43ubMJz
📄 Inherited Genetic Risk in Stillbirth: A Shared Genomic Segments Analysis of High-Risk Pedigrees
👉https://bit.ly/43ubMJz
📣 New from Zhao et al!
📄 Unexpectedly high levels of normally spliced transcripts from the pathogenic SLC10A7 c.722–16A>G/ c.472-1G>T alleles in a recessive form of skeletal dysplasia
👉 bit.ly/3LC3jOn
📄 Unexpectedly high levels of normally spliced transcripts from the pathogenic SLC10A7 c.722–16A>G/ c.472-1G>T alleles in a recessive form of skeletal dysplasia
👉 bit.ly/3LC3jOn
November 12, 2025 at 5:36 PM
📣 New from Zhao et al!
📄 Unexpectedly high levels of normally spliced transcripts from the pathogenic SLC10A7 c.722–16A>G/ c.472-1G>T alleles in a recessive form of skeletal dysplasia
👉 bit.ly/3LC3jOn
📄 Unexpectedly high levels of normally spliced transcripts from the pathogenic SLC10A7 c.722–16A>G/ c.472-1G>T alleles in a recessive form of skeletal dysplasia
👉 bit.ly/3LC3jOn
📣 New from Liu et al!
📄 A National Biobank Framework for Rare Diseases: Standardized Infrastructure and Cross-Institutional Collaboration Accelerating Translational Innovation in China
📄 A National Biobank Framework for Rare Diseases: Standardized Infrastructure and Cross-Institutional Collaboration Accelerating Translational Innovation in China
A National Biobank Framework for Rare Diseases: Standardized Infrastructure and Cross-Institutional Collaboration Accelerating Translational Innovation in China
This study presents a national framework for a rare disease biobank in China, integrating
446 institutions through standardized infrastructure and secure data sharing. Uniting
clinical, molecular, and...
bit.ly
November 12, 2025 at 5:33 PM
📣 New from Liu et al!
📄 A National Biobank Framework for Rare Diseases: Standardized Infrastructure and Cross-Institutional Collaboration Accelerating Translational Innovation in China
📄 A National Biobank Framework for Rare Diseases: Standardized Infrastructure and Cross-Institutional Collaboration Accelerating Translational Innovation in China
📣New from Doss et al!
📄Exon-skipping due to biallelic splice site mutations in the neurodevelopmental disease gene LNPK
👉 bit.ly/4nNcA3z
📄Exon-skipping due to biallelic splice site mutations in the neurodevelopmental disease gene LNPK
👉 bit.ly/4nNcA3z
November 6, 2025 at 4:41 PM
📣New from Doss et al!
📄Exon-skipping due to biallelic splice site mutations in the neurodevelopmental disease gene LNPK
👉 bit.ly/4nNcA3z
📄Exon-skipping due to biallelic splice site mutations in the neurodevelopmental disease gene LNPK
👉 bit.ly/4nNcA3z
📣New from Xu et al!
📄CUL1 Variants Cause Severe Neurodevelopmental Disorders: Insights from Human Genetics and a Zebrafish Model of Microcephaly
🧬🐟🧠
👉 bit.ly/4oyJqWU
📄CUL1 Variants Cause Severe Neurodevelopmental Disorders: Insights from Human Genetics and a Zebrafish Model of Microcephaly
🧬🐟🧠
👉 bit.ly/4oyJqWU
November 4, 2025 at 3:22 PM
📣New from Xu et al!
📄CUL1 Variants Cause Severe Neurodevelopmental Disorders: Insights from Human Genetics and a Zebrafish Model of Microcephaly
🧬🐟🧠
👉 bit.ly/4oyJqWU
📄CUL1 Variants Cause Severe Neurodevelopmental Disorders: Insights from Human Genetics and a Zebrafish Model of Microcephaly
🧬🐟🧠
👉 bit.ly/4oyJqWU
📣Online now! 🧬🪰
📄Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila models
🧑🤝🧑 @poseypod.bsky.social #UDN & co
👉 tinyurl.com/muypbjat
📄Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila models
🧑🤝🧑 @poseypod.bsky.social #UDN & co
👉 tinyurl.com/muypbjat
October 31, 2025 at 7:16 PM
📣Online now! 🧬🪰
📄Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila models
🧑🤝🧑 @poseypod.bsky.social #UDN & co
👉 tinyurl.com/muypbjat
📄Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila models
🧑🤝🧑 @poseypod.bsky.social #UDN & co
👉 tinyurl.com/muypbjat
Don't forget to register for our next Journal Club--NEXT WEDNESDAY!!
Join us for the November Journal Club!
📅 November 5, 12 PM U.S. ET
Featuring Joanna Melia, MD, @hggadvances.bsky.social author, register now to participate in the discussion on Aberrant N-glycosylation as a potential therapeutic target in ZIP8 variant carriers.
🔗 bit.ly/4p6VvCX
#ASHG
📅 November 5, 12 PM U.S. ET
Featuring Joanna Melia, MD, @hggadvances.bsky.social author, register now to participate in the discussion on Aberrant N-glycosylation as a potential therapeutic target in ZIP8 variant carriers.
🔗 bit.ly/4p6VvCX
#ASHG
October 31, 2025 at 7:12 PM
Don't forget to register for our next Journal Club--NEXT WEDNESDAY!!
📣Online now! 🧬🫀
📄Multi-trait #GWAS identified risk loci and candidate drugs for heart failure
👉 tinyurl.com/5n8rsn78
📄Multi-trait #GWAS identified risk loci and candidate drugs for heart failure
👉 tinyurl.com/5n8rsn78
October 29, 2025 at 2:22 PM
📣Online now! 🧬🫀
📄Multi-trait #GWAS identified risk loci and candidate drugs for heart failure
👉 tinyurl.com/5n8rsn78
📄Multi-trait #GWAS identified risk loci and candidate drugs for heart failure
👉 tinyurl.com/5n8rsn78
📣 New from @sashagusevposts.bsky.social & co!
📄Discovery of disease-associated cellular states using ResidPCA in single-cell RNA and ATAC sequencing data
🖥️ github.com/carversh/res...
👉 tinyurl.com/357m7s77
📄Discovery of disease-associated cellular states using ResidPCA in single-cell RNA and ATAC sequencing data
🖥️ github.com/carversh/res...
👉 tinyurl.com/357m7s77
October 28, 2025 at 1:31 PM
📣 New from @sashagusevposts.bsky.social & co!
📄Discovery of disease-associated cellular states using ResidPCA in single-cell RNA and ATAC sequencing data
🖥️ github.com/carversh/res...
👉 tinyurl.com/357m7s77
📄Discovery of disease-associated cellular states using ResidPCA in single-cell RNA and ATAC sequencing data
🖥️ github.com/carversh/res...
👉 tinyurl.com/357m7s77
📣Online now!
📄Splicing and frameshift variants in QSER1 may be involved in developmental phenotypes
👉 tinyurl.com/2ryww2zy
📄Splicing and frameshift variants in QSER1 may be involved in developmental phenotypes
👉 tinyurl.com/2ryww2zy
October 27, 2025 at 7:52 PM
📣Online now!
📄Splicing and frameshift variants in QSER1 may be involved in developmental phenotypes
👉 tinyurl.com/2ryww2zy
📄Splicing and frameshift variants in QSER1 may be involved in developmental phenotypes
👉 tinyurl.com/2ryww2zy
📣 New from @profsimonfisher.bsky.social & co!
📄Functional characterization of pathogenic SATB2 missense variants identifies distinct effects on chromatin binding and transcriptional activity
👉 tinyurl.com/ym94skym
📄Functional characterization of pathogenic SATB2 missense variants identifies distinct effects on chromatin binding and transcriptional activity
👉 tinyurl.com/ym94skym
October 27, 2025 at 7:50 PM
📣 New from @profsimonfisher.bsky.social & co!
📄Functional characterization of pathogenic SATB2 missense variants identifies distinct effects on chromatin binding and transcriptional activity
👉 tinyurl.com/ym94skym
📄Functional characterization of pathogenic SATB2 missense variants identifies distinct effects on chromatin binding and transcriptional activity
👉 tinyurl.com/ym94skym
📣 New from @telomeredoc.bsky.social & co!
📄Detailed Assessment of Rare and Common TERT Variation in a Family with a Telomere Biology Disorder
👉 tinyurl.com/3kwnk3zm
📄Detailed Assessment of Rare and Common TERT Variation in a Family with a Telomere Biology Disorder
👉 tinyurl.com/3kwnk3zm
October 27, 2025 at 7:48 PM
📣 New from @telomeredoc.bsky.social & co!
📄Detailed Assessment of Rare and Common TERT Variation in a Family with a Telomere Biology Disorder
👉 tinyurl.com/3kwnk3zm
📄Detailed Assessment of Rare and Common TERT Variation in a Family with a Telomere Biology Disorder
👉 tinyurl.com/3kwnk3zm
📣Online now! 🧬🐭
📄Genetic Landscape of Morphine Response in BXD Recombinant Inbred Mice
👉 tinyurl.com/yw6khxx2
📄Genetic Landscape of Morphine Response in BXD Recombinant Inbred Mice
👉 tinyurl.com/yw6khxx2
October 27, 2025 at 2:52 PM
📣Online now! 🧬🐭
📄Genetic Landscape of Morphine Response in BXD Recombinant Inbred Mice
👉 tinyurl.com/yw6khxx2
📄Genetic Landscape of Morphine Response in BXD Recombinant Inbred Mice
👉 tinyurl.com/yw6khxx2
📣Online now!
📄The impact of Indigenous American-like ancestry on risk of acute lymphoblastic #leukemia in Hispanic/Latino children
🧑🤝🧑 @charleston.bsky.social @adamdesmith.bsky.social & co
👉 bit.ly/47qXY3Q
📄The impact of Indigenous American-like ancestry on risk of acute lymphoblastic #leukemia in Hispanic/Latino children
🧑🤝🧑 @charleston.bsky.social @adamdesmith.bsky.social & co
👉 bit.ly/47qXY3Q
October 27, 2025 at 2:48 PM
📣Online now!
📄The impact of Indigenous American-like ancestry on risk of acute lymphoblastic #leukemia in Hispanic/Latino children
🧑🤝🧑 @charleston.bsky.social @adamdesmith.bsky.social & co
👉 bit.ly/47qXY3Q
📄The impact of Indigenous American-like ancestry on risk of acute lymphoblastic #leukemia in Hispanic/Latino children
🧑🤝🧑 @charleston.bsky.social @adamdesmith.bsky.social & co
👉 bit.ly/47qXY3Q
🎉Spotlight on this year's Early Career Investigator Award winner Hye In Kim
👉Common genetic modifiers influence cardiomyopathy susceptibility among the carriers of rare pathogenic variants
📄 tinyurl.com/2fvn7zjc
📹 tinyurl.com/cnxypfus
👉Common genetic modifiers influence cardiomyopathy susceptibility among the carriers of rare pathogenic variants
📄 tinyurl.com/2fvn7zjc
📹 tinyurl.com/cnxypfus
October 23, 2025 at 3:50 PM
🎉Spotlight on this year's Early Career Investigator Award winner Hye In Kim
👉Common genetic modifiers influence cardiomyopathy susceptibility among the carriers of rare pathogenic variants
📄 tinyurl.com/2fvn7zjc
📹 tinyurl.com/cnxypfus
👉Common genetic modifiers influence cardiomyopathy susceptibility among the carriers of rare pathogenic variants
📄 tinyurl.com/2fvn7zjc
📹 tinyurl.com/cnxypfus
🎉Spotlight on this year's Early Career Investigator Award winner @mariagtac.bsky.social
👉Functional genomics implicates natural killer cells in the pathogenesis of ankylosing spondylitis
📄 tinyurl.com/thw54sv7
📹 tinyurl.com/4c5knydd
👉Functional genomics implicates natural killer cells in the pathogenesis of ankylosing spondylitis
📄 tinyurl.com/thw54sv7
📹 tinyurl.com/4c5knydd
October 23, 2025 at 3:49 PM
🎉Spotlight on this year's Early Career Investigator Award winner @mariagtac.bsky.social
👉Functional genomics implicates natural killer cells in the pathogenesis of ankylosing spondylitis
📄 tinyurl.com/thw54sv7
📹 tinyurl.com/4c5knydd
👉Functional genomics implicates natural killer cells in the pathogenesis of ankylosing spondylitis
📄 tinyurl.com/thw54sv7
📹 tinyurl.com/4c5knydd
🚨ICYMI
📄GrafAnc: Reliable and Reproducible Inference of Continental and Regional Population Structure
👉bit.ly/4qpy7SA
📄GrafAnc: Reliable and Reproducible Inference of Continental and Regional Population Structure
👉bit.ly/4qpy7SA
October 21, 2025 at 4:36 PM
🚨ICYMI
📄GrafAnc: Reliable and Reproducible Inference of Continental and Regional Population Structure
👉bit.ly/4qpy7SA
📄GrafAnc: Reliable and Reproducible Inference of Continental and Regional Population Structure
👉bit.ly/4qpy7SA
🥳Congratulations again to winners of the HGG Advances & @ajhgnews.bsky.social Outstanding Publication awards! Check out these videos to learn more about this group of inspiring young scientists!
ASHG 2025 Journal Award Winners! - YouTube
www.youtube.com
October 20, 2025 at 9:08 PM
🥳Congratulations again to winners of the HGG Advances & @ajhgnews.bsky.social Outstanding Publication awards! Check out these videos to learn more about this group of inspiring young scientists!
📣New from Wang & colleagues!
📑Fine Mapping Regulatory Variants by Characterizing Native CpG Methylation with Nanopore Long-Read Sequencing
👉 bit.ly/4o8qMoY
📑Fine Mapping Regulatory Variants by Characterizing Native CpG Methylation with Nanopore Long-Read Sequencing
👉 bit.ly/4o8qMoY
Fine Mapping Regulatory Variants by Characterizing Native CpG Methylation with Nanopore Long-Read Sequencing
This study introduces a nanopore long-read sequencing approach to identify functional
SNPs by jointly profiling DNA methylation and genetic variation on the same molecules.
By examining epigenetic cha...
bit.ly
October 20, 2025 at 5:40 PM
📣New from Wang & colleagues!
📑Fine Mapping Regulatory Variants by Characterizing Native CpG Methylation with Nanopore Long-Read Sequencing
👉 bit.ly/4o8qMoY
📑Fine Mapping Regulatory Variants by Characterizing Native CpG Methylation with Nanopore Long-Read Sequencing
👉 bit.ly/4o8qMoY
Reposted by Human Genetics and Genomics Advances
The celebration for @hggadvances.bsky.social 5th anniversary continues! During #ASHG25 only, stop by #ASHG Central, booth #854, for a free speaker🔊 (while supplies last)
🔗 www.ashg.org/publications... #ASHG
🔗 www.ashg.org/publications... #ASHG
October 15, 2025 at 7:15 PM
The celebration for @hggadvances.bsky.social 5th anniversary continues! During #ASHG25 only, stop by #ASHG Central, booth #854, for a free speaker🔊 (while supplies last)
🔗 www.ashg.org/publications... #ASHG
🔗 www.ashg.org/publications... #ASHG
🎶🎶 Attention ASHG members! Head over to ASHG Central during the poster session to pick up an @hggadvances.bsky.social portable speaker! #ashg25
October 15, 2025 at 6:26 PM
🎶🎶 Attention ASHG members! Head over to ASHG Central during the poster session to pick up an @hggadvances.bsky.social portable speaker! #ashg25