Journal of Clinical & Medical Genomics

Department of Psychiatry, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02215, USA

Publications

• Mini Review   
  A Cutting Edge Sequencing-Based Convention for Screening of Variations of Concern in Mental Imbalance Range Issue
  Author(s): Warnert Zhao*
  
  Autism spectrum disorder (ASD) is a neurodevelopmental problem with solid hereditary impacts. There is a rising interest for ASD hereditary testing past the generally suggested microarray and syndromic mental imbalance testing; nonetheless, the ongoing entire genome sequencing (WGS) and entire exome sequencing (WES) techniques are inadequate with regards to a scholarly norm for WGS variation explanation, revealing, and translation, custom-made towards patients with ASD and offer extremely restricted understanding for clinical importance. Utilizing WGS information from six family triplets, we show the clinical attainability and specialized execution of a proof based, completely straightforward bioinformatics pipeline and report structure for an ASD-centered WGS hereditary report. We affirmed a part of the critical variations with Sanger sequencing and furnished .. Read More»
  DOI: 10.37421/2472-128X.2022.10.218

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