Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases
npj Genomic Medicine, 2017 Childhood-onset muscle disorders are genetically heterogeneous. Diagnostic workup has traditionally included muscle biopsy, protein-based studies of muscle specimens, and candidate gene sequencing.
Deborah Schofield +12 more
doaj +1 more source
Whole-Exome-Sequencing-Based Discovery of Human FADD Deficiency [PDF]
, 2010 Alexandre Bolze +16 more
openalex +1 more source
O1‐03‐02: Exome sequencing of late‐onset extended Alzheimer families [PDF]
, 2010 Stephan Züchner +3 more
openalex +1 more source
Mapping Whole Exome Sequencing to In Vivo Imaging with Stereotactic Localization and Deep Learning [PDF]
arXivThis study presents a multi-faceted approach combining stereotactic biopsy with standard clinical open-craniotomy for sample collection, voxel-wise analysis of MR images, regression-based Generalized Additive Models (GAM), & whole-exome sequencing.
arxiv
Prior Knowledge based mutation prioritization towards causal variant finding in rare disease [PDF]
arXiv, 2017 How do we determine the mutational effects in exome sequencing data with little or no statistical evidence? Can protein structural information fill in the gap of not having enough statistical evidence? In this work, we answer the two questions with the goal towards determining pathogenic effects of rare variants in rare disease. We take the approach of
arxiv
Frequent somatic mutations in MAP3K5 and MAP3K9 in metastatic melanoma identified by exome sequencing [PDF]
, 2011 Mitchell Stark +29 more
openalex +1 more source
Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors
Nature Communications, 2017 Identifying the mutational landscape of tumours from cell-free DNA in the blood could help diagnostics in cancer. Here, the authors present ichorCNA, software that quantifies tumour content in cell free DNA, and they demonstrate that cell-free DNA whole ...
Viktor A. Adalsteinsson +56 more
doaj +1 more source
Learning from Data-Rich Problems: A Case Study on Genetic Variant Calling [PDF]
arXiv, 2019 Next Generation Sequencing can sample the whole genome (WGS) or the 1-2% of the genome that codes for proteins called the whole exome (WES). Machine learning approaches to variant calling achieve high accuracy in WGS data, but the reduced number of training examples causes training with WES data alone to achieve lower accuracy.
arxiv
Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13 [PDF]
, 2011 Minal Çalışkan +14 more
openalex +1 more source
High-performance single-chip exon capture allows accurate whole exome sequencing using the Illumina Genome Analyzer [PDF]
, 2011 Tao Jiang +4 more
openalex +1 more source