Segmental duplication annovar

Duplications Tatiana Popova1,2,3 ... Mutations were annotated by Annovar (31). Analysis of gene expression ... sional plot of segmental copy number and allelic difference

Medicine and those located with segmental duplications were removed. SNVs detected by WES were con firmed by Sanger sequencing. Primer sequences are available in Supplementary Table S1. The details of the PCR conditions are available on request. Our human genome researches and gene analysis Gene transcript contents by ANNOVAR (28). Polymorphisms ... mic segmental duplication database (29) alongside variants with 90% homology with multiple regions were ...

Turkey is a crossroads of major population movements throughout history and has been a hotspot of cultural interactions. Several studies have investigated the complex population history of Turkey through a limited set of genetic markers. However, to date, there have been no studies to assess the genetic variation at the whole genome level using whole genome sequencing. Here, we present whole ... 2 TG472.001 Focal Segmental ... (18q22.3 interstitial duplication) Rett syndrome (MECP2)William syndrome, FISH for subtelomeric ... achieved using ANNOVAR [15 ... Transcript. 1 Translational Bioinformatics ploscollections.org/translationalbioinformatics . 2 'Translational Bioinformatics' is a collection of PLOS Computational ... Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) is a complex and devastating disease whose etiology is poorly understood, despite its initial description 50 years ago .

Results: In the first case, we report prenatal diagnosis of a 2,6 Mb deletion at 22q11.2 and a 1,7 Mb duplication at 16p13.11 in a fetus with congenital heart defect. Methods and results We developed a web server called wANNOVAR to address the critical needs for functional annotation of genetic variants from personal genomes. The server provides simple and intuitive interface to help users determine the functional significance of variants.