Resources
Publications
Artificial intelligence (AI)-assisted exome reanalysis greatly aids in the identification of new positive cases and reduces analysis time in a clinical diagnostic laboratory
(2021)
(OHSU Knight Diagnostic Laboratories)
DNA Methylation Profiling and Genomic Analysis in 20 Children with Short Stature Who Were Born Small for Gestational Age
(2020)
(Antwerp University Hospital, Belgium)
Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis
(2020)
(UCSF)
Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population
(2020)
(UCSF)
Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses
(2020)
(Rady Children’s Hospital, San Diego)
Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments
(2019)
(Uppsala University, Sweden)
A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants
(2019)
(Rady Children’s Hospital, San Diego)
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation
(2020)
(Rady Children’s Hospital, San Diego)
A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo
(2018)
(KU Leuven, Belgium)
Webinars
Automated genome interpretation with
Moon (18 Nov 2021), in this webinar:
We present Moon’s utility for automated genomic interpretation in clinical settings
We review Moon’s positive impact in a high-throughput diagnostic setting at Invitae
We walk attendees through the entire process, from uploading VCF and patient info to finding the causal
variant in Moon, through a live software demo
Invitae
exome interpretation: Leading with science and innovation to bring exomes to scale (12 Jan 2021)
Webinar learning objectives: recognize current challenges of clinical exome sequencing for rare genetic
disorders, summarize how Invitae is addressing these challenges through its variant interpretation
processes and its recent acquisition and integration of Diploid’s Moon and Apollo software, compare and
contrast variant re-evaluation and case-level reanalysis definitions and processes.
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