Alex Hoischen
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ahoischen.bsky.social
Alex Hoischen
@ahoischen.bsky.social
990 followers 380 following 170 posts
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
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Reposted by Alex Hoischen
natrevgenet.nature.com
Our featured article: Structural variants in the 3D genome as drivers of disease - Review by Varun K. A. Sreenivasan, Verónica Yumiceba & Malte Spielmann go.nature.com/4oiPdPQ
Free to read here: rdcu.be/eu0KR
Structural variants in the 3D genome as drivers of disease
Nature Reviews Genetics - Disruption of the 3D genome caused by structural variation contributes to developmental disorders and cancer. The authors review the causes and molecular and clinical...
rdcu.be
October 15, 2025 at 11:54 AM
ahoischen.bsky.social
October 2, 2025 at 7:08 AM
ahoischen.bsky.social
Thanks to everyone who contributed to this wonderful event!
October 2, 2025 at 7:08 AM
ahoischen.bsky.social
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
ahoischen.bsky.social
…and another update: good and bad news!
Short reads got shorter - and long reads even longer…
September 15, 2025 at 6:54 PM
ahoischen.bsky.social
…and long vs short reads are almost everywhere at #nvhg2025! ;-)
September 15, 2025 at 3:37 PM