Excited to present a short course today with Birgit Funke on Exome Sequencing as the first line test TRI-CON #TRICON

How to get elective genomic testing right- more difficult than we thought! PeerJ Preprints peerj.com/preprints/27922 #Genetics #Genomics #PublicHealth #MedicalGenetics

Spot on!

Thought of the day :) #showmethedata

Very much appreciate the opportunity to be involved with this important genomics community initiative and my amazing colleagues at CAP. Looking forward to continuing the dialog with Johan DenDunnen and #HGVS.

The 2020 ACMG Annual Clinical Genetics Meeting - Digital Edition Webinar Series continues next Thursday, June 4, 2020. Join us at 11 AM ET for "Defining Best Clinical Practices in Genomic Testing of Healthy Individuals." bit.ly/2Ac8hws #ACMGMtg20 #medicaleducation

I am honored to be joined by such outstanding faculty who are pioneering this new application of genomic testing Marc Williams (he, him), Mark Caulfield, Genomics England, David Bick.

Such a beautiful and true statement!

Congrats Marc!!!!

Lucia’s jewelry is truly unique!!

Are labs asking too much/too little on 🫀🧬 req forms? Our consensus for #HCM: only 9 fields will do. Thanks Birgit Funke for the idea and coauthors for entrusting me to lead this ClinGen effort between labs, clinicians and academic centers in the US and abroad. #gcchat

Great to see the positive impact of all that hard work 👏 Melissa A Kelly Birgit Funke Ana Morales, MS, CGC (she/hers/ella) Linnea Baudhuin, PhD 🧬 Kate Thomson James Ware On Mastodon & LinkedIn - Colleen Caleshu

Sema4 is hiring! Multiple openings for Board certified lab directors and clinical test analysts with experience/interest in proactive genomic testing, hereditary cancer and cardiovascular disease!

A partnership between CDC Genomics & Precision Health & ClinGen, will create a publicly available list of 546 curated #pathogenic variants in 84 #genes for use in NGS. Read more about their work in The Journal of Molecular Diagnostics here: spkl.io/60194O94D Association for Molecular Pathology American Society for Investigative Pathobiology Chhavi Chauhan (CC) CAPathologists

Creation of an Expert Curated Variant List for Clinical Genomic Test Development and Validation: A ClinGen and GeT-RM Collaborative Project. New from CDC Genomics & Precision Health, ClinGen, and Association for Molecular Pathology member authors. Read for FREE here: jmdjournal.org/article/S1525-… Birgit Funke

"Genetic testing has evolved from interrogating small sets of known pathogenetic variants in one or a few genes to examining hundreds or thousands of genes simultaneously using NGS." Birgit Funke #GeneticTesting #Variants #NGS ow.ly/ypX150Gq6xd

Check out speakers for world's first international conference on newborn sequencing (@ICoNSeqInt) Oct 5-6! All speakers will be on site at the Boston Museum of Science. Register for in-person or streaming right away at bit.ly/3RBNWDD but in-person will be more fun!

Discuss the future of genetic testing tmrw. at Harvard Medical School with leaders including Isaac Kohane Jimi Olaghere @VertexScience GRAIL Heidi Rehm 23andMe Research Carlos D. Bustamante 🇻🇪🇺🇸 Alicia Martin Aniruddh Patel Birgit Funke Sharon Plon UDN Register (free): dbmi.hms.harvard.edu/events/precisi…

ACGS & ClinGen's Inherited Cardiomyopathy Expert Panel join forces to adapt ACMG/AMP variant classification guidelines for HCM-associated genes beyond MYH7. Data sharing & joint decision-making are first step in global development & use of common specified guidelines.

ClinGen’s CMP-EP and UK’s ACGS join forces to adapt ACMG/AMP guidelines for CMP genes beyond MYH7 (tinyurl.com/MYH7paper). Data sharing and joint decision-making are first step in global development and use of common set of specified guidelines. tinyurl.com/CardioCDWG