One of the weakness of the gnomAD data set is that we've focused entirely on small variants (SNVs and indels). UNTIL NOW. I'm excited to announce a new chapter in the project: gnomAD-SV, a systematic investigation of structural variants. Preprint here: https://t.co/DJd31L72f2

Our structural variation map in gnomAD is finally out! Outstanding collaboration w/ @dgmacarthur lab & our team led by the SV duo of @RyanLCollins13 + Harrison Brand https://t.co/cMKl06VDc9

Parisa Razaz on " Tissue-specific molecular signatures associated with 16p11.2 reciprocal genomic disorder." #ashg18 Rm 6B, 11:30 https://t.co/lYIjjr8fvD

The AGBT Precision Health meeting will feature several world renowned speakers and stakeholders across all domains of genomic medicine.

Today is the last day for abstract submission to the AGBT Precision Health meeting. Agenda is outstanding and features world renowned speakers and stakeholders across all domains of genomic medicine
https://t.co/PmYWnlOSlN
Contact Leisa Zigman (leisaz@agbt.org) with any questions

Congrats to Donna, Harrison, Joon, Matt, Linxue, and many other talented trainees who drove these analyses.

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