1. ClinGen advancing genomic data‐sharing standards as a GA4GH driver project. Issue 11 (11th October 2018) Authors: Dolman, Lena; Page, Angela; Babb, Lawrence; Freimuth, Robert R.; Arachchi, Harindra; Bizon, Chris; Brush, Matthew; Fiume, Marc; Haendel, Melissa; Hansen, David P.; Milosavljevic, Aleksandar; Patel, Ronak Y.; Pawliczek, Piotr; Yates, Andrew D.; Rehm, Heidi L. Other Names: Rehm Heidi L. guestEditor.; Berg Jonathan S. guestEditor.; Plon Sharon E. guestEditor. Journal: Human mutation Issue: Volume 39:Issue 11(2018) Page Start: 1686 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Empowering genomic medicine by establishing critical sequencing result data flows: the eMERGE example. (31st May 2018) Authors: Aronson, Samuel; Babb, Lawrence; Ames, Darren; Gibbs, Richard A; Venner, Eric; Connelly, John J; Marsolo, Keith; Weng, Chunhua; Williams, Marc S; Hartzler, Andrea L; Liang, Wayne H; Ralston, James D; Devine, Emily Beth; Murphy, Shawn; Chute, Christopher G; Caraballo, Pedro J; Kullo, Iftikhar J; F... Journal: Journal of the American Medical Informatics Association Issue: Volume 25:Number 10(2018) Page Start: 1375 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Seqr: A web‐based analysis and collaboration tool for rare disease genomics. Issue 6 (21st March 2022) Authors: Pais, Lynn S.; Snow, Hana; Weisburd, Ben; Zhang, Shifa; Baxter, Samantha M.; DiTroia, Stephanie; O'Heir, Emily; England, Eleina; Chao, Katherine R.; Lemire, Gabrielle; Osei‐Owusu, Ikeoluwa; VanNoy, Grace E.; Wilson, Michael; Nguyen, Kevin; Arachchi, Harindra; Phu, William; Solomonson, Matthew; Ma... Other Names: Boycott Kym guestEditor.; Hamosh Ada guestEditor.; Rehm Heidi guestEditor. Journal: Human mutation Issue: Volume 43:Issue 6(2022) Page Start: 698 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗