The rise of “big data” on cloud computing: Review and open research issues
Cloud computing is a powerful technology to perform massive-scale and complex
computing. It eliminates the need to maintain expensive computing hardware, dedicated …
computing. It eliminates the need to maintain expensive computing hardware, dedicated …
Methods of integrating data to uncover genotype–phenotype interactions
MD Ritchie, ER Holzinger, R Li… - Nature Reviews …, 2015 - nature.com
Recent technological advances have expanded the breadth of available omic data, from
whole-genome sequencing data, to extensive transcriptomic, methylomic and metabolomic …
whole-genome sequencing data, to extensive transcriptomic, methylomic and metabolomic …
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study
FE Dewey, MF Murray, JD Overton, L Habegger… - Science, 2016 - science.org
INTRODUCTION Large-scale genetic studies of integrated health care populations, with
phenotypic data captured natively in the documentation of clinical care, have the potential to …
phenotypic data captured natively in the documentation of clinical care, have the potential to …
Molecular findings among patients referred for clinical whole-exome sequencing
Importance Clinical whole-exome sequencing is increasingly used for diagnostic evaluation
of patients with suspected genetic disorders. Objective To perform clinical whole-exome …
of patients with suspected genetic disorders. Objective To perform clinical whole-exome …
The somatic genomic landscape of chromophobe renal cell carcinoma
We describe the landscape of somatic genomic alterations of 66 chromophobe renal cell
carcinomas (ChRCCs) on the basis of multidimensional and comprehensive …
carcinomas (ChRCCs) on the basis of multidimensional and comprehensive …
Diagnostic yield of clinical tumor and germline whole-exome sequencing for children with solid tumors
DW Parsons, A Roy, Y Yang, T Wang, S Scollon… - JAMA …, 2016 - jamanetwork.com
Importance Whole-exome sequencing (WES) has the potential to reveal tumor and germline
mutations of clinical relevance, but the diagnostic yield for pediatric patients with solid …
mutations of clinical relevance, but the diagnostic yield for pediatric patients with solid …
Silent hippocampal seizures and spikes identified by foramen ovale electrodes in Alzheimer's disease
AD Lam, G Deck, A Goldman, EN Eskandar… - Nature medicine, 2017 - nature.com
We directly assessed mesial temporal activity using intracranial foramen ovale electrodes in
two patients with Alzheimer's disease (AD) without a history or EEG evidence of seizures …
two patients with Alzheimer's disease (AD) without a history or EEG evidence of seizures …
Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis
R Chakraborty, OA Hampton, X Shen… - Blood, The Journal …, 2014 - ashpublications.org
Langerhans cell histiocytosis (LCH) is a myeloproliferative disorder characterized by lesions
composed of pathological CD207+ dendritic cells with an inflammatory infiltrate …
composed of pathological CD207+ dendritic cells with an inflammatory infiltrate …
COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis
Unbiased genetic studies have uncovered surprising molecular mechanisms in human
cellular immunity and autoimmunity. We performed whole-exome sequencing and targeted …
cellular immunity and autoimmunity. We performed whole-exome sequencing and targeted …
Primary immunodeficiency diseases: genomic approaches delineate heterogeneous Mendelian disorders
A Stray-Pedersen, HS Sorte, P Samarakoon… - Journal of Allergy and …, 2017 - Elsevier
Background Primary immunodeficiency diseases (PIDDs) are clinically and genetically
heterogeneous disorders thus far associated with mutations in more than 300 genes. The …
heterogeneous disorders thus far associated with mutations in more than 300 genes. The …