whole‐exome sequencingBackgroundClinical diagnostic whole‐exome sequencing (WES) is a powerful tool for patients with undiagnosed genetic disorders. To demonstrate the clinical utility, we surveyed healthcare providers (HCP) about changes in medical management and treatment, diagnostic testing, ...
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis. Genet Med. 2017 Nov 2. https://doi.org/10.1038/gim.2017. 162....
33,34,35] and undiagnosed diseases [36] and identify actionable cancer drivers and signatures. The different clinical applications and the type of analyses that are implicated in the diagnostics are shown in Fig.2. There are several reasons why whole-genome sequencing (WGS) is becoming the prefe...
Original Research Article © American College of Medical Genetics and Genomics Clinical application of whole-exome sequencing across clinical indications Kyle Retterer, MS1, Jane Juusola, PhD1, Megan T. Cho, ScM1, Patrik Vitazka, MD, PhD1, Francisca Millan, MD1, ...
Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (DMD). Int. J. Mol. Sci. 2022, 23, 59. https://doi.org/10.3390/ijms23010059 AMA Style Gonçalves A, Fortuna A, Ariyurek Y, Oliveira ME, Nadais G, ...
Benefits of Whole Exome Clinical Reports: Next Generation Sequencing (NGS) technology has become an invaluable method to support diagnosis of rare genetic conditions as well as to optimize an individual’s course of treatment for illness The exome is only ~1-2% of the genome but approximately ...
Concurrently, initial genomic DNA (50 ng) was whole-exome captured depending on custom-designed probe NanoWES (Berry Genomics, Beijing, China). Library preparation was performed using Human Whole Exome Detection Kit (Berry Genomics, Beijing, China), and HiFi HotStart ReadyMix (KAPA) was used ...
README MIT license MIP - Mutation Identification Pipeline MIP enables identification of potential disease causing variants from sequencing data. Citing MIP Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients...
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders Yaping Yang, Ph.D., Donna M. Muzny, M.Sc., Jeffrey G. Reid, Ph.D., Matthew N. Bainbridge, Ph.D., Alecia Willis, Ph.D., Patricia A. Ward, M.S., Alicia Braxton, M.S., Joke Beuten, Ph.D., Fan Xia, ...
25, 2024 /PRNewswire/ -- Kosta Lešević, a three-year-old from Belgrade, Serbia, whose journey from symptoms to diagnosis provides valuable insights into the application of precision medicine in identifying and managing rare genetic disorders. His story also remind...