Manual inspection of CNVs remains essential for accurate variant interpretation. Check out our latest work, where we integrate multiple evidence sources for CNV interpretation, all in one platform! @LupskiLab@CMBCarvalho@GREGoR_research
https://t.co/HIJXPZrQC3
@CluHaowei@LiuPF@CMBCarvalho@LupskiLab@JollyAngad@BCMHouston use short and long-read seq to characterize the MdnCNV phenomenon revealing early post-zygotic occurrence, disease-associated genes, and evidence of de novo multilocus pathogenic variation
https://t.co/JtFa38riDZ
#ASHG2022 Please check out our work on MdnCNV phenomenon with long read and short read sequencing technologies, and HPO analysis that is online at Genome Medicine today. Huge thanks to @CGrochowski@JollyAngad@LiuPF@CMBCarvalho@LupskiLab
https://t.co/vqhQzXC7Ix
Our new work in Robinow Syndrome has been just published. Great collaboration with Chaofan Zhang at the @LupskiLab and Juliana @jumazzeu lab in Brazil.
Enjoyed talking with the gene therapy group at UTSW today about our work on the genetics of axonopathies (HSP, neuropathies) and neurodevelopmental disorders!
Great work with @ryanlayer@aaronquinlan@brent_p to finally revolutionize SV DB & reliable AF estimation! STIX solves the problem of missing SV & ref bias for SV DB. Showcase in #Cancer filtering somatic calls & prioritization. @naturemethods@BCM_HGSC
https://t.co/Eoan38UmzA