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Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families
Usher syndrome (USH) is a leading cause of deaf-blindness in autosomal recessive trait. Phenotypic and genetic heterogeneities in USH make molecular diagnosis much difficult. This is a pilot studyExpand
Exome-assistant: a rapid and easy detection of disease-related genes and genetic variations from exome sequencing
BackgroundProtein-coding regions in human genes harbor 85% of the mutations that are associated with disease-related traits. Compared with whole-genome sequencing of complex samples, exome sequencingExpand
Genomic landscapes of Chinese sporadic autism spectrum disorders revealed by whole-genome sequencing.
  • Jinyu Wu, P. Yu, +22 authors Z. Sun
  • Biology, Medicine
  • Journal of genetics and genomics = Yi chuan xue…
  • 20 October 2018
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with considerable clinical and genetic heterogeneity. In this study, we identified all classes of genomic variants from whole-genomeExpand
Molecular Diagnosis of Putative Stargardt Disease by Capture Next Generation Sequencing
Stargardt Disease (STGD) is the commonest genetic form of juvenile or early adult onset macular degeneration, which is a genetically heterogeneous disease. Molecular diagnosis of STGD remains aExpand
Novel mutations in PDE6B causing human retinitis pigmentosa.
AIM To identify the genetic defects of a Chinese patient with sporadic retinitis pigmentosa (RP). METHODS Ophthalmologic examinations were performed on the sporadic RP patient, 144 genes associatedExpand
A recurrent deletion mutation in OPA1 causes autosomal dominant optic atrophy in a Chinese family
Autosomal dominant optic atrophy (ADOA) is the most frequent form of hereditary optic neuropathy and occurs due to the degeneration of the retinal ganglion cells. To identify the genetic defect in aExpand
Accurate Detection of CNV Based on Single-Nucleotide Variants Recalibration and Image Classification from whole genome sequencing
TLDR
We presented a novel framework which integrated SNV-based recalibration probabilistic model and image classification architecture (ImageCNV) for CNVs discovery. Expand