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Articles Tagged: Whole Exome Sequencing
February 29, 2024
10 Ways Genetic Laboratories Can Support the Rare Disease Community
A top-ten list of ways laboratories can contribute to progress in identifying and treating rare disease for the more than 300 million people suffering from…
Advocacy Group
Novel Genes
Patient Advocate
VUS
Whole Exome Sequencing
February 26, 2024
From Awareness to Action: Supporting Rare Disease Today and Everyday
For Rare Disease Day, a list of patient advocacy groups dedicated to raising awareness about rare diseases and the millions of individuals around the world…
Advocacy Group
Novel Genes
Patient Advocate
VUS
Whole Exome Sequencing
December 8, 2023
A Genetic Counselor’s Experience with Proactive Reanalysis through Patient for Life: An Interview with Kelly Minks, MS, CGC
Meagan Farmer interviews Kelly Minks, MS, CGC, a genetic counselor in the Department of Neurology at the University of Rochester Medical Center, who routinely orders…
Epilepsy
Genetic Counselors
Genetic Testing
Whole Exome Sequencing
December 5, 2023
Addressing equity in exome sequencing: Proactive reanalysis through the Ambry Patient for Life program helps to reduce racial, ethnic, and ancestral disparities
Emerging evidence shows that exome sequencing outcomes can see similar racial and ethnic disparities as other genetic tests. Therefore, exome reanalysis represents a step to…
Genetic Discrimination
Hereditary Cancer
Whole Exome Sequencing
July 18, 2023
Gene of the Month: KCNH5
How whole exome sequencing helped 2-year-old Emma receive a diagnosis for epileptic encephalopathy.
Epilepsy
Whole Exome Sequencing
May 18, 2023
Meet the Gene Team: Jennifer Huang, PhD, presents the Gene of the Month, PTPN4
For Ambry’s third installment of Meet the Gene Team, we would like to introduce Jennifer Huang, PhD, Senior Clinical Scientist at Ambry Genetics. She talks about…
Genetic Testing
Whole Exome Sequencing
