Combining exome and gene expression datasets in one graphical model of disease to empower the discovery of disease mechanisms [PDF]
arXiv, 2015 Identifying genes associated with complex human diseases is one of the main challenges of human genetics and computational medicine. To answer this question, millions of genetic variants get screened to identify a few of importance. To increase the power of identifying genes associated with diseases and to account for other potential sources of protein
arxiv
Cancer Medicine, Volume 11, Issue 24, Page 4880-4888, December 2022., 2022 Kaplan–Meier analysis demonstrated that patients with splenomegaly had worse OS than those without splenomegaly. Abstract Background & aims Immune checkpoint inhibitors (ICIs) play an increasingly important role in the treatment of primary liver cancer (PLC). Some patients with PLC experience symptoms of splenomegaly.
Lu‐Shan Xiao +9 more
wiley +1 more source
Exome sequencing supports a de novo mutational paradigm for schizophrenia [PDF]
, 2011 Bin Xu +7 more
openalex +1 more source
Inference on High-Dimensional Sparse Count Data [PDF]
arXiv, 2015 In a variety of application areas, there is a growing interest in analyzing high dimensional sparse count data, with sparsity exhibited by an over-abundance of zeros and small non-zero counts. Existing approaches for analyzing multivariate count data via Poisson or negative binomial log-linear hierarchical models with zero-inflation cannot flexibly ...
arxiv
Prognosis prediction of stage IV colorectal cancer patients by mRNA transcriptional profile
Cancer Medicine, Volume 11, Issue 24, Page 4900-4912, December 2022., 2022 This study aimed to clarify the prognostic factors for stage IV CRC patients undergoing primary cancer resection but not liver metastasis resection. WES and RNA‐Seq were used to sequence primary cancer tissues of 78 and 84 patients, respectively. Models were established to stratify the prognosis and to predict individual patient prognosis.
Bian Wu +5 more
wiley +1 more source
Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV [PDF]
, 2011 J. Fah Sathirapongsasuti +7 more
openalex +1 more source
Autosomal recessive hyper‐IgE syndrome due to DOCK8 deficiency: An adjunctive role for omalizumab
Journal of Cutaneous Immunology and Allergy, Volume 5, Issue 6, Page 222-226, December 2022., 2022 We report a rare case of AR‐HIES with DOCK8 deficiency in a young male that was successfully treated by infection management, skincare, diet elimination, and omalizumab. Abstract Autosomal recessive hyper‐IgE syndrome (AR‐HIES) is a rare primary immunodeficiency disorder characterized by high serum IgE levels, recurrent viral skin infections, severe ...
Kim Han Nguyen +8 more
wiley +1 more source
Frequent somatic mutations in MAP3K5 and MAP3K9 in metastatic melanoma identified by exome sequencing [PDF]
, 2011 Mitchell Stark +29 more
openalex +1 more source
ukbFGSEA: an R Package for Applying Fast Preranked Gene Set Enrichment Analysis to UK Biobank Exome Data [PDF]
arXivThe Genebass dataset, released by Karczewski et al. (2022), provides a comprehensive resource elucidating associations between genes and 4,529 phenotypes based on nearly 400,000 exomes from the UK Biobank. This extensive dataset enables the evaluation of gene set enrichment across a wide range of phenotypes, facilitating the inference of associations ...
arxiv
A W-test collapsing method for rare variant testing with applications to exome sequencing data of hypertensive disorder [PDF]
arXiv, 2016 Advancement in sequencing technology enables the study of association between complex disorders and rare variants with low minor allele frequencies. One of the major challenges in rare variant testing is lack of statistical power of traditional testing methods due to extremely low variances of single nucleotide polymorphisms.
arxiv