Alex Hoischen
@ahoischen.bsky.social
Genomic technologies: WES/WGS, long-read sequencing, optical genome mapping, somatic mutations;
Immuno-genomics: rare diseases; immunodeficiencies; inborn errors of immunity; clonal hematopoiesis
https://shorturl.at/MxQ7O
https://www.immuno-genomics.com
Immuno-genomics: rare diseases; immunodeficiencies; inborn errors of immunity; clonal hematopoiesis
https://shorturl.at/MxQ7O
https://www.immuno-genomics.com
Great start of the “3rd Channelopathy Meeting Tübingen
Genetic epilepsies and other neuronal ion channel disorders: Mechanisms and therapeutic perspectives; 23rd-25th September 2025, Tübingen, Germany”.
Here the first DNA was isolated - ever.
Genetic epilepsies and other neuronal ion channel disorders: Mechanisms and therapeutic perspectives; 23rd-25th September 2025, Tübingen, Germany”.
Here the first DNA was isolated - ever.
September 23, 2025 at 9:11 PM
Great start of the “3rd Channelopathy Meeting Tübingen
Genetic epilepsies and other neuronal ion channel disorders: Mechanisms and therapeutic perspectives; 23rd-25th September 2025, Tübingen, Germany”.
Here the first DNA was isolated - ever.
Genetic epilepsies and other neuronal ion channel disorders: Mechanisms and therapeutic perspectives; 23rd-25th September 2025, Tübingen, Germany”.
Here the first DNA was isolated - ever.
Followed by a talk by my fabulous postdoc Bart van der Sanden demonstrating that long-read genome sequencing is not only very accurate in identifying de novo mutations for all variant types; but excitingly also promises extra yield of sr-exome/genome sequencing between 7-17%!!!
September 16, 2025 at 9:10 AM
Followed by a talk by my fabulous postdoc Bart van der Sanden demonstrating that long-read genome sequencing is not only very accurate in identifying de novo mutations for all variant types; but excitingly also promises extra yield of sr-exome/genome sequencing between 7-17%!!!
Starting day two at #nvhg2025 with some great talks!
Amongst them my wonderful colleague Richarda de Voer talking about the role for postzygotic mutations in cancer.
Amongst them my wonderful colleague Richarda de Voer talking about the role for postzygotic mutations in cancer.
September 16, 2025 at 9:10 AM
Starting day two at #nvhg2025 with some great talks!
Amongst them my wonderful colleague Richarda de Voer talking about the role for postzygotic mutations in cancer.
Amongst them my wonderful colleague Richarda de Voer talking about the role for postzygotic mutations in cancer.
…and another update: good and bad news!
Short reads got shorter - and long reads even longer…
Short reads got shorter - and long reads even longer…
September 15, 2025 at 6:54 PM
…and another update: good and bad news!
Short reads got shorter - and long reads even longer…
Short reads got shorter - and long reads even longer…
Great delivery of his #nvhg2025 presentation by @wolfram-hops.bsky.social!
…the future of germline testing is clear now: generic first tier testing by long-read genome sequencing!
…the future of germline testing is clear now: generic first tier testing by long-read genome sequencing!
September 15, 2025 at 1:40 PM
Great delivery of his #nvhg2025 presentation by @wolfram-hops.bsky.social!
…the future of germline testing is clear now: generic first tier testing by long-read genome sequencing!
…the future of germline testing is clear now: generic first tier testing by long-read genome sequencing!
And of course also all technicians and PhD candidates are also crucial to our group. Keep up the great effort!
September 15, 2025 at 8:54 AM
And of course also all technicians and PhD candidates are also crucial to our group. Keep up the great effort!
Day one #nvhg2025 kicked of by the great Hans Clevers - amazing how organoids help basic scientific understanding all the way to therapies!
September 15, 2025 at 8:12 AM
Day one #nvhg2025 kicked of by the great Hans Clevers - amazing how organoids help basic scientific understanding all the way to therapies!
Thanks for everyone’s active participation and intruiging discussions.
Many thanks to all colleagues from our department @radboudumc.bsky.social - and particular thanks for the wonderful organization @christiangilissen.bsky.social!
Many thanks to all colleagues from our department @radboudumc.bsky.social - and particular thanks for the wonderful organization @christiangilissen.bsky.social!
August 8, 2025 at 8:05 AM
Thanks for everyone’s active participation and intruiging discussions.
Many thanks to all colleagues from our department @radboudumc.bsky.social - and particular thanks for the wonderful organization @christiangilissen.bsky.social!
Many thanks to all colleagues from our department @radboudumc.bsky.social - and particular thanks for the wonderful organization @christiangilissen.bsky.social!
And today a very nice and very educative lecture on the fascinating worlds of gene regulation, TADs and imprinting. Impressive! @daannoordermeerlab.bsky.social
June 8, 2025 at 2:09 PM
And today a very nice and very educative lecture on the fascinating worlds of gene regulation, TADs and imprinting. Impressive! @daannoordermeerlab.bsky.social
I only need to get an icecreme…
May 24, 2025 at 5:18 PM
I only need to get an icecreme…
Getting ready for #eshg2025 …and our postdoc @lydiasagath.bsky.social made a nice BINGO card again.
Paying a lot of attention to the entire event will pay off!
Paying a lot of attention to the entire event will pay off!
May 23, 2025 at 4:26 PM
Getting ready for #eshg2025 …and our postdoc @lydiasagath.bsky.social made a nice BINGO card again.
Paying a lot of attention to the entire event will pay off!
Paying a lot of attention to the entire event will pay off!
#Bertinoro2025 congratulations to this years poster price winners!
Aina Marsal Olivan and Bernhard Wildom
@eshg.bsky.social @eshgyoung.bsky.social
Aina Marsal Olivan and Bernhard Wildom
@eshg.bsky.social @eshgyoung.bsky.social
May 9, 2025 at 4:31 PM
#Bertinoro2025 congratulations to this years poster price winners!
Aina Marsal Olivan and Bernhard Wildom
@eshg.bsky.social @eshgyoung.bsky.social
Aina Marsal Olivan and Bernhard Wildom
@eshg.bsky.social @eshgyoung.bsky.social
Highlight of #bertinoro2025 - the McKusick-Romeo lecture 2025 given by Stylianos Antonarakis!
@eshg.bsky.social @eshgyoung.bsky.social
@eshg.bsky.social @eshgyoung.bsky.social
May 9, 2025 at 4:23 PM
Highlight of #bertinoro2025 - the McKusick-Romeo lecture 2025 given by Stylianos Antonarakis!
@eshg.bsky.social @eshgyoung.bsky.social
@eshg.bsky.social @eshgyoung.bsky.social
Last lecture for day 5 by the terrific @leastarita.bsky.social on saturation genome editing to solve the VUS problem; also on behalf of the heroic MAVE effort:
www.mavedb.org
www.mavedb.org
May 8, 2025 at 9:57 AM
Last lecture for day 5 by the terrific @leastarita.bsky.social on saturation genome editing to solve the VUS problem; also on behalf of the heroic MAVE effort:
www.mavedb.org
www.mavedb.org
Next up: Alex Reymond on “Boundaries between rare and common disease” exemplified on 16p11.2 CNVs.
Alex is also co-chair of ESHG European Society of Human Genetics fantastic SPC!
Alex is also co-chair of ESHG European Society of Human Genetics fantastic SPC!
May 8, 2025 at 9:18 AM
Next up: Alex Reymond on “Boundaries between rare and common disease” exemplified on 16p11.2 CNVs.
Alex is also co-chair of ESHG European Society of Human Genetics fantastic SPC!
Alex is also co-chair of ESHG European Society of Human Genetics fantastic SPC!
And now we are privileged to listen to Evan Eichler @eichlerlab.bsky.social on “Long read sequencing, T2T genome and complete genetic variation”!
May 8, 2025 at 7:51 AM
And now we are privileged to listen to Evan Eichler @eichlerlab.bsky.social on “Long read sequencing, T2T genome and complete genetic variation”!
Day 5 #bertinoro is kicked of by the wonderful @ksamocha.bsky.social aka “Mrs gnomAD” on “Patterns of rare variation contributing to disease.”
@eshg.bsky.social @eshgyoung.bsky.social
@eshg.bsky.social @eshgyoung.bsky.social
May 8, 2025 at 7:18 AM
Day 5 #bertinoro is kicked of by the wonderful @ksamocha.bsky.social aka “Mrs gnomAD” on “Patterns of rare variation contributing to disease.”
@eshg.bsky.social @eshgyoung.bsky.social
@eshg.bsky.social @eshgyoung.bsky.social
Final lecture by @nickywhiffin.bsky.social from „what’s an exon“ to RNU and other non-coding rare disease discoveries. Stunning!
May 7, 2025 at 10:41 AM
Final lecture by @nickywhiffin.bsky.social from „what’s an exon“ to RNU and other non-coding rare disease discoveries. Stunning!
Erik Sistermans very nicely showing all applications of cell-free DNA! So many opportunities.
May 7, 2025 at 10:30 AM
Erik Sistermans very nicely showing all applications of cell-free DNA! So many opportunities.
Next up the wonderful Karen Temple on the fascinating world of imprinting disorders (to be expected that known and new imprinting disorders are found earlier)!
May 7, 2025 at 8:17 AM
Next up the wonderful Karen Temple on the fascinating world of imprinting disorders (to be expected that known and new imprinting disorders are found earlier)!
Day 4 #bertinoro2025 is started by our wonderful collaborator and friend Carla Oliveira on the basics of cancer. #eshg2025 @eshg.bsky.social @eshgyoung.bsky.social
May 7, 2025 at 7:14 AM
Day 4 #bertinoro2025 is started by our wonderful collaborator and friend Carla Oliveira on the basics of cancer. #eshg2025 @eshg.bsky.social @eshgyoung.bsky.social