If i remember correctly from ashg2024 there was a bunch of talks about rare variants in PGS and most of the effect was in the tails. I too wouldn't be surprised if there is GxG there too.
June 5, 2025 at 5:13 PM
If i remember correctly from ashg2024 there was a bunch of talks about rare variants in PGS and most of the effect was in the tails. I too wouldn't be surprised if there is GxG there too.
It's been a little over a month since Trinity was presented at #ASHG2024. Save time and labor—Twist Trinity(TM) Sequencing with just 1 hour of hybridization time with our Fast Hyb reagents.
Learn more here: www.twistbioscience.com/resources/pr...
@elembio.bsky.social, @twistbio.bsky.social
Learn more here: www.twistbioscience.com/resources/pr...
@elembio.bsky.social, @twistbio.bsky.social
December 19, 2024 at 8:57 PM
It's been a little over a month since Trinity was presented at #ASHG2024. Save time and labor—Twist Trinity(TM) Sequencing with just 1 hour of hybridization time with our Fast Hyb reagents.
Learn more here: www.twistbioscience.com/resources/pr...
@elembio.bsky.social, @twistbio.bsky.social
Learn more here: www.twistbioscience.com/resources/pr...
@elembio.bsky.social, @twistbio.bsky.social
🚀 Download our recent poster from #ASHG2024 to learn how our PCR-free Trinity workflow expands what’s possible on a benchtop platform by eliminating or integrating post-hybridization steps onboard an #AVITI system while providing significant performance advantages. bit.ly/3OYpyg0 #Sequencing
December 16, 2024 at 6:31 PM
🚀 Download our recent poster from #ASHG2024 to learn how our PCR-free Trinity workflow expands what’s possible on a benchtop platform by eliminating or integrating post-hybridization steps onboard an #AVITI system while providing significant performance advantages. bit.ly/3OYpyg0 #Sequencing
🌟 Discover how the #AVITI system enables high-throughput WGS and large insert #sequencing applications, demonstrating flexibility and ability to scale large throughput applications with a benchtop sequencer. Download our recent poster from #ASHG2024 to learn more: bit.ly/4fsn2cN
December 10, 2024 at 9:16 PM
🌟 Discover how the #AVITI system enables high-throughput WGS and large insert #sequencing applications, demonstrating flexibility and ability to scale large throughput applications with a benchtop sequencer. Download our recent poster from #ASHG2024 to learn more: bit.ly/4fsn2cN
🎥 Watch our #ASHG2024 workshop on-demand. Hear Catherine Brownstein, MPH, PhD, Harvard University and our own Shawn Levy, PhD share how we’re expanding what’s possible on a single platform with simplified workflows, integrated #multiomic capabilities, and improved scalability. bit.ly/3VlAbgh
December 2, 2024 at 6:17 PM
🎥 Watch our #ASHG2024 workshop on-demand. Hear Catherine Brownstein, MPH, PhD, Harvard University and our own Shawn Levy, PhD share how we’re expanding what’s possible on a single platform with simplified workflows, integrated #multiomic capabilities, and improved scalability. bit.ly/3VlAbgh
Download our recent poster from #ASHG2024 to learn how our Trinity™ workflow expands what’s possible on a benchtop platform by eliminating or integrating post-hybridization steps onboard an #AVITI system while providing significant performance advantages. View the poster: bit.ly/4iggAIq #Genomics
November 25, 2024 at 5:07 PM
Download our recent poster from #ASHG2024 to learn how our Trinity™ workflow expands what’s possible on a benchtop platform by eliminating or integrating post-hybridization steps onboard an #AVITI system while providing significant performance advantages. View the poster: bit.ly/4iggAIq #Genomics
The last two weeks were full of science, meetings with old friends, new ideas, opportunities for collaborations and meeting new people who are doing amazing things.
I feel thankful for being at #ashg2024 and #iscbla2024 presenting our #lupusrgmx work
& This is just the begining 🤭🧬💜
I feel thankful for being at #ashg2024 and #iscbla2024 presenting our #lupusrgmx work
& This is just the begining 🤭🧬💜
November 22, 2024 at 3:03 AM
The last two weeks were full of science, meetings with old friends, new ideas, opportunities for collaborations and meeting new people who are doing amazing things.
I feel thankful for being at #ashg2024 and #iscbla2024 presenting our #lupusrgmx work
& This is just the begining 🤭🧬💜
I feel thankful for being at #ashg2024 and #iscbla2024 presenting our #lupusrgmx work
& This is just the begining 🤭🧬💜
From #ASHG2024 A brief description of electronic genome mapping www.linkedin.com/feed/update/...
John F. Thompson on LinkedIn: #ashg2024 #nabsys
I may be biased but I think this is a great short video explaining the Nabsys EGM system. #ASHG2024 #Nabsys
www.linkedin.com
November 21, 2024 at 12:28 AM
From #ASHG2024 A brief description of electronic genome mapping www.linkedin.com/feed/update/...
And recently Francesco Cisternino on behalf of our team, Yipei Song, Tim Peters, Clint Miller, and Craig Glastonbury present our ongoing work at the #ASHG2024 👇
x.com/francescocis...
Pretty soon there will be a #preprint. So stay tuned!
@umcutrecht.bsky.social
x.com/francescocis...
Pretty soon there will be a #preprint. So stay tuned!
@umcutrecht.bsky.social
x.com
x.com
November 20, 2024 at 5:54 PM
And recently Francesco Cisternino on behalf of our team, Yipei Song, Tim Peters, Clint Miller, and Craig Glastonbury present our ongoing work at the #ASHG2024 👇
x.com/francescocis...
Pretty soon there will be a #preprint. So stay tuned!
@umcutrecht.bsky.social
x.com/francescocis...
Pretty soon there will be a #preprint. So stay tuned!
@umcutrecht.bsky.social
#ASHG2024 was a blast. I had great discussions with friends and #pacbio collaborators, presented a poster on my new tool SVTopo, welcomed #PacBioVega to the world, and realized than I'm a bigger fan of One Republic than I knew before. Excited for next time!
November 13, 2024 at 6:59 PM
#ASHG2024 was a blast. I had great discussions with friends and #pacbio collaborators, presented a poster on my new tool SVTopo, welcomed #PacBioVega to the world, and realized than I'm a bigger fan of One Republic than I knew before. Excited for next time!
Ok intersection of #cardiogen #cardiosky and #ashg2024
What were the most interesting cardiac genetics posters & presentations at ASHG this year in Denver?
What were the most interesting cardiac genetics posters & presentations at ASHG this year in Denver?
November 12, 2024 at 2:52 AM
Ok intersection of #cardiogen #cardiosky and #ashg2024
What were the most interesting cardiac genetics posters & presentations at ASHG this year in Denver?
What were the most interesting cardiac genetics posters & presentations at ASHG this year in Denver?
Last speaker of the session is Crystal Lumpkins on The Health Information Environment: Fertile ground for sowing seeds of transformation and moving past the status quo. Importance of community-engaged health communication to reduce disparities in health outcomes #ASHG24 #ASHG2024
November 9, 2024 at 7:01 PM
Third speaker of the last #ASHG24 #ASHG2024 Symposium from Vertex Pharmaceuticals talking about development of innovative therapies for #CysticFibrosis #SickleCellDisease, pain by targeting Nav1.8 and development of an APOL1 inhibitor for kidney disease.
November 9, 2024 at 6:56 PM
Third speaker of the last #ASHG24 #ASHG2024 Symposium from Vertex Pharmaceuticals talking about development of innovative therapies for #CysticFibrosis #SickleCellDisease, pain by targeting Nav1.8 and development of an APOL1 inhibitor for kidney disease.
Heather Hampel: PD-1 inhibitors are now an effective therapy for Lynch Syndrome patients & other cancers with microsatellite instability (MSI). Moreover, MSI produces neopeptides that are being targeted for vaccine development & trials to prevent cancer dev #ASHG24 #ASHG2024
November 9, 2024 at 6:44 PM
Next, Heather Hampel from City of Hope talking about the story of microsatellite instability discovery and screening for Lynch Syndrome in colorectal & endometrial cancer patients. Importance of cascade testing in Lynch Syndrome families to identify at risk pts #ASHG24 #ASHG2024
November 9, 2024 at 6:30 PM
David Goldstein: "Everyone agrees that genetic evidence is important for drug dev. But what evidence?" The strongest genetic evidence is for Mendelian disease genes. Few Mendelian genes have been well studied, most haven't. Unrealized potential for therapeutic development #ASHG24 #ASHG2024
November 9, 2024 at 6:15 PM
Starting now the last scientific session of #ASHG24 #ASHG2024 with the Symposium on The Promise and Payoff of Human Genetics and Genomics: Paths from Bench to Bedside. First talk by David Goldstein talking about the evaluation of rare disease associated genes for drug and therapy development.
November 9, 2024 at 6:09 PM
You can read the full results of the GUARDIAN pilot study in the very recently published original investigation article in JAMA
#ASHG2024 #ASHG24
jamanetwork.com/journals/jam...
#ASHG2024 #ASHG24
jamanetwork.com/journals/jam...
Expanded Newborn Screening Using Genome Sequencing
This multisite, single-group, prospective, observational study examines the feasibility and potential impact of genomic newborn screening using dried blood spots in a racially and ethnically diverse p...
jamanetwork.com
November 9, 2024 at 1:36 AM
You can read the full results of the GUARDIAN pilot study in the very recently published original investigation article in JAMA
#ASHG2024 #ASHG24
jamanetwork.com/journals/jam...
#ASHG2024 #ASHG24
jamanetwork.com/journals/jam...
Awesome talk by Wendy Chung on the results of the first 10,000 samples screened through the GUARDIAN genomic newborn screening pilot program in New York! #ASHG24 #ASHG2024 Important insights into the implementation of genomic sequencing for early diagnosis of #RareDiseases
November 9, 2024 at 1:35 AM
Awesome talk by Wendy Chung on the results of the first 10,000 samples screened through the GUARDIAN genomic newborn screening pilot program in New York! #ASHG24 #ASHG2024 Important insights into the implementation of genomic sequencing for early diagnosis of #RareDiseases
Rare coding variants for actionable conditions have large impact on inpatient healthcare cost highlighting importance & potential benefit of population screening programs #ASHG24 #ASHG2024
☝🏽This is why we need population precision health studies and programs in Latin America!
☝🏽This is why we need population precision health studies and programs in Latin America!
November 9, 2024 at 12:32 AM