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Clinical use of rapid sequencing of complete genomes with linkages

A new study seeks to determine the underlying etiology of the slab and will reduce the potential of therapy in the target, reduce the potential for crisis control and childhood illness. The results of the research will be presented at the meeting of the Pediatric Academy of Society (PAS) 2019, to be held on April 24 (May 1) in Baltimore.

"As a neonatologist who works with the Genomics Institute team, I have seen the identification of the explicit first-line genome sequencing (rWGS), and then optimizing their care," said Jeanne Carrolle. MD, one of the authors of the study. "The first RWGS can respond to families with serious problems, doctors can provide a prognosis, and most importantly, they can guide therapy when they can result. A retrospective study of the 19 patients who received the neonatal interstitial care unit (NICU) recognized the aetiology of seizures as clearly as six WGS diagnoses achieving a molecule. Four of these four patients received four medical management changes due to genetic diagnosis. "

Research backslashes identified a cohort of patients who had suffered a very rapid sequencing of 30 days during the first 30 days of life. In these cases, etiology kidney, the results of the rWGS evaluated and the changes in management were analyzed based on RWGS results.

Eleven patients were identified with mean age of four days and the average day of sequencing hospital was 3.3. Six episodes of RWGS were performed (31.6%). Four patients later, they found themselves in a neuroimmune to have a stroke and three had a hypoxic ischemic encephalopathy (HIE) in the RM. Six of the diagnoses were a change in four management, including three arrests, and another with neurometabolic specialization and additional diets. Two KCNQ2 mutations and antiepileptic medication were found in both patients. In each case, the medication regime is optimized in the control of genetic findings and by reducing the side effects of non-targeted therapies. In this cohort, there was also epilepsy involving pyridoxine, two syndromes and a metabolic identified.

The study concluded that rWGS can identify etiology and direct therapy with signs without neonatal manifestations.

Parents had a feverish crisis after vaccination had not been compromised

More information:
Dr. Carroll, on April 27, at 9:15 p.m., will present the results of the "rWGS clinical utility in newborn kidnapping evaluation".

Paediatrics American Association

Clinical utility of the fastest sequencing genome with linkages (2019, April 27)
It was acquired on April 27, 2019

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