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Article
Open AccessMonoallelic expression in melanoma
Monoallelic expression (MAE) is a frequent genomic phenomenon in normal tissues, however its role in cancer is yet to be fully understood. MAE is defined as the expression of a gene that is restricted to one a...
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Chapter and Conference Paper
Porting and Benchmarking of BWAKIT Pipeline on OpenPOWER Architecture
Next Generation Sequencing (NGS) technology produces large volumes of genome data, which gets processed using various open source bioinformatics tools. The configuration and compilation of some bioinformatics...
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Article
Open AccessAccelerating next generation sequencing data analysis with system level optimizations
Next generation sequencing (NGS) data analysis is highly compute intensive. In-memory computing, vectorization, bulk data transfer, CPU frequency scaling are some of the hardware features in the modern computi...
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Article
Open AccessErratum to: Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome
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Article
Open AccessDiagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome
Hyaline fibromatosis syndrome (HFS) is a recently introduced alternative term for two disorders that were previously known as juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH). These ...
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Article
Open AccessTemple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?
KCNH1 encodes a voltage-gated potassium channel that is predominantly expressed in the central nervous system. Mutations in this gene were recently found to be responsible for Temple-Baraitser Syndrome (TMBTS) an...
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Article
Open AccessObesity susceptibility loci in Qataris, a highly consanguineous Arabian population
In Qataris, a population characterized by a small size and a high rate of consanguinity, between two-thirds to three-quarters of adults are overweight or obese. We investigated the relevance of 23 obesity-rela...
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Chapter and Conference Paper
An OGSA-Based Quality of Service Framework
Grid computing provides a robust paradigm to aggregate disparate resources in a secure and controlled environment. Grid architectures require an underpinning Quality of Service (QoS) support in order to manage...
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Chapter
Quality-of-Service Based Grid Communities
Locating suitable services within a dynamic distributed system is a computationally intensive process, with no guarantee of quality and suitability of the discovered services. This is especially true for trans...
