mirVAFC: A Web Server for Prioritizations of Pathogenic Sequence Variants from Exome Sequencing Data via Classifications.
Exome sequencing has been widely used to identify the genetic variants underlying human genetic disorders for clinical diagnoses, but the identification of pathogenic sequence variants among the huge amounts of benign ones is complicated and challenging. Here, we describe a new Web server named mirVAFC for pathogenic sequence variants prioritizations from clinical exome sequencing (CES) variant data of single individual or family. The mirVAFC is able to comprehensively annotate sequence variants, filter out most irrelevant variants using custom criteria, classify variants into different categories as for estimated pathogenicity, and lastly provide pathogenic variants prioritizations based on classifications and mutation effects. Case studies using different types of datasets for different diseases from publication and our in-house data have revealed that mirVAFC can efficiently identify the right pathogenic candidates as in original work in each case. Overall, the Web server mirVAFC is specifically developed for pathogenic sequence variant identifications from family-based CES variants using classification-based prioritizations. The mirVAFC Web server is freely accessible at https://www.wzgenomics.cn/mirVAFC/.
Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou, China.
Zhongshan
Z
Li
Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou, China.
Zhenwei
Z
Liu
Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou, China.
Yi
Y
Jiang
Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou, China.
Denghui
D
Chen
Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou, China.
Xia
X
Ran
Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou, China.|Beijing Institute of Life Science, Chinese Academy of Sciences, Beijing, China.
Zhong Sheng
ZS
Sun
Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou, China.
Jinyu
J
Wu
D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics; D000067877:Autism Spectrum Disorder / Q000235:genetics; D019295:Computational Biology / Q000379:methods*; D030541:Databases, Genetic; D059472:Exome; D014644:Genetic Variation; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D058977:Molecular Sequence Annotation; D017422:Sequence Analysis, DNA; D012984:Software; D013169:Spondylolysis / Q000235:genetics; D064878:Web Browser; D000073359:Exome Sequencing
clinical exome sequencing; genetic disorder; pathogenic; prioritization; sequence variants