The 2018 ACMG Annual Clinical Genetics Meeting will present both research and clinical topics that promote the science and the practice of clinical genetics and genomics. Genetics professionals are provided with the opportunity to learn how genetics and genomics are being integrated into medical and clinical practice.
Visit us at booth #1421!
Thursday, April 12, 10:30 am – 11:00 am
“Optimizing Whole Exome Sequencing Assays for Clinical Diagnostic of Rare Diseases in a Pediatric Population”
Presented by Jennifer Schleit PhD FACMG Senior Geneticist at Blueprint Genetics
Thursday, April 12, 10:00 am – 11:30 am
“Comparison of Whole Exome Sequencing Assays With Boosted Clinical Content”
Poster Number: 729
Presented by Mikko Muona Genetic Informatics Specialist at Blueprint Genetics
“Deletions of Variable Size Are Commonly Identified in Hearing Loss Patients in a Diagnostic Laboratory: Diagnostic Yield of 110 Cases”
Poster Number: 707
Presented by Eveliina Salminen Geneticist Team Leader at Blueprint Genetics
Read more about the event here.