We recently posted a medRxiv preprint on our large-scale data aggregation efforts for rare copy-number variants (rCNVs) across human diseases and disorders.
It's hard to believe, but this study actually started over five years ago as a final project in MIT's Quantitatve Genomics course co-taught by Profs. Leonid Mirny and Shamil Sunyaev during my first semester as a PhD student back in the fall...
RyanLCollins13Interested in complex structural variants and Mendelian diseases?
Check out this fascinating example of a dupINVdup causing a blood disorder by @bloodgenes & co 👇
Functional follow-up was crucial to understand the consequence of the SV
Glad to have played a (very) small part! t.co/UqcwX5DHjS
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acarroll_ATGThis looks pretty cool. If I read it correctly, they assemble 20% of the genome from one single cell, and can look at things like TCR rearrangement, or identify somatic SVs without the complexity of somatic calling. Impressive this is possible! @_adameur & @infoecho on the work t.co/lpn3rf7Z8i
RyanLCollins13👇 Valuable skim for anyone using CRISPR-Cas9 in applications where high edit fidelity is important
Not a shocking finding (I assumed outcomes like this were very rare but possible), but hugely important to have this empirically demonstrated!
Awesome genome bio here, too👏 t.co/nZyImgodUJ