8 Result(s)
within
Eric W Klee
Life Sciences
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Article
Open AccessIdentification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease
X-chromosome inactivation (XCI) is an epigenetic process that occurs during early development in mammalian females by randomly silencing one of two copies of the X chromosome in each cell. The preferential ina...
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Article
Open AccessHELLO: improved neural network architectures and methodologies for small variant calling
Modern Next Generation- and Third Generation- Sequencing methods such as Illumina and PacBio Circular Consensus Sequencing platforms provide accurate sequencing data. Parallel developments in Deep Learning hav...
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Article
Open AccessCorrection to: Recommendations for performance optimizations when using GATK3.8 and GATK4
Following publication of the original article [1], the author explained that Table 2 is displayed incorrectly. The correct Table 2 is given below. The original article has been corrected.
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Article
Open AccessRecommendations for performance optimizations when using GATK3.8 and GATK4
Use of the Genome Analysis Toolkit (GATK) continues to be the standard practice in genomic variant calling in both research and the clinic. Recently the toolkit has been rapidly evolving. Significant computati...
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Article
Open AccessImpact of RNA degradation on fusion detection by RNA-seq
RNA-seq is a well-established method for studying the transcriptome. Popular methods for library preparation in RNA-seq such as Illumina TruSeq® RNA v2 kit use a poly-A pulldown strategy. Such methods can caus...
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Article
Open AccessProceedings of the 15th Annual UT-KBRIN Bioinformatics Summit 2016
I1 Proceedings of the Fifteenth Annual UT- KBRIN Bioinformatics Summit 2016
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Article
Open Access3' tag digital gene expression profiling of human brain and universal reference RNA using Illumina Genome Analyzer
Massive parallel sequencing has the potential to replace microarrays as the method for transcriptome profiling. Currently there are two protocols: full-length RNA sequencing (RNA-SEQ) and 3'-tag digital gene e...
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Article
Open AccessEvaluating eukaryotic secreted protein prediction
Improvements in protein sequence annotation and an increase in the number of annotated protein databases has fueled development of an increasing number of software tools to predict secreted proteins. Six softw...
