Recent Publications

Retrospective analysis of automated genome interpretation performance in patients with rare genetic disorders
November, 2015
A genome sequencing program for novel undiagnosed diseases
March, 2015
Automated Genomic Interpretation of Sub-Chromosomal Fetal Copy Number Variation by Sequencing Circulating Cell-Free DNA from Maternal Plasma
March, 2015
An Automated Approach for Investigating Rare Disease (Whitepaper)
March, 2015
Symptom-driven Idiopathic Disease Gene Identification
January, 2015
Frequency of “ACMG-56” Variants in Whole Genomes of Healthy Elderly
October, 2014
De novo KCNB1 Mutations in Epileptic Encephalopathy
October, 2014
Evidence for the Role of EPHX2 Gene Variants in Anorexia Nervosa
June, 2014
Gain-of-function ADCY5 Mutations in Familial Dyskinesia with Facial Myokymia
March, 2014