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Whole exome sequencing analysis pipeline for the discovery of mutations causative of human rare diseases
"... Abstract Recent advances in high-throughput sequencing technologies have made exome sequencing to be an outstanding tool for finding disease associated mutations at a relatively low cost. However, it is a non-trivial task to transform the vast amount of sequence data into meaningful variants to imp ..."
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Abstract Recent advances in high-throughput sequencing technologies have made exome sequencing to be an outstanding tool for finding disease associated mutations at a relatively low cost. However, it is a non-trivial task to transform the vast amount of sequence data into meaningful variants
EMBnet.journal 19.A Posters 79 Analysis pipeline for the detection of mutations causative of rare diseases on whole exome
"... sequencing data ..."
What can exome sequencing do for
, 2011
"... Recent advances in next-generation sequencing technologies have brought a paradigm shift in how medical researchers investigate both rare and common human disorders. The ability cost-effectively to generate genome-wide sequencing data with deep coverage in a short time frame is replacing approaches ..."
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Cited by 11 (0 self)
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and understanding of diseases, ultimately enabling personalised medicine based on one’s genome. This paper provides an overview of the current and future use of next generation sequencing as it relates to whole exome sequencing in human disease by focusing on the technical capabilities, limitations and ethical
Open Access Comprehensive comparison of three commercial human whole-exome capture platforms
"... Background: Exome sequencing, which allows the global analysis of protein coding sequences in the human genome, has become an effective and affordable approach to detecting causative genetic mutations in diseases. Currently, there are several commercial human exome capture platforms; however, the re ..."
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Background: Exome sequencing, which allows the global analysis of protein coding sequences in the human genome, has become an effective and affordable approach to detecting causative genetic mutations in diseases. Currently, there are several commercial human exome capture platforms; however
unknown title
"... ABSTRACT The falling cost of DNA sequencing has made the technology affordable to many research groups, enabling researchers to link genomic variants to observed phenotypes in a range of species. This review focusses on whole exome sequencing and its applications in humans and other species. The exo ..."
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nature of exons, many of these can be applied to other closely related species. The data set produced from exome sequencing is many times smaller than that of whole genome sequencing, making it more easily manageable and the analysis less complex. Exome sequencing for disease gene discovery in humans
Disease insights through cross-species phenotype comparisons
"... Abstract New sequencing technologies have ushered in a new era for diagnosis and discovery of new causative mutations for rare diseases. However, the sheer numbers of candidate variants that require interpretation in an exome or genomic analysis are still a challenging prospect. A powerful approach ..."
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Cited by 1 (1 self)
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Abstract New sequencing technologies have ushered in a new era for diagnosis and discovery of new causative mutations for rare diseases. However, the sheer numbers of candidate variants that require interpretation in an exome or genomic analysis are still a challenging prospect. A powerful approach
Genomics of chromophobe renal cell carcinoma: implications from a rare tumor for pan-cancer studies
"... This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Chromophobe Renal Cell Carcinoma (ChRCC) is a rare subtype of th ..."
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of the renal cell carcinomas, a heterogenous group of cancers arising from the nephron. Recently, The Cancer Genome Atlas (TCGA) profiled this understudied disease using multiple data platforms, including whole exome sequencing, whole genome sequencing (WGS), and mitochondrial DNA (mtDNA) sequencing
Functional Analysis of Variance for Association Studies
"... While progress has been made in identifying common genetic variants associated with human diseases, for most of common complex diseases, the identified genetic variants only account for a small proportion of heritability. Challenges remain in finding additional unknown genetic variants predisposing ..."
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investigate their role in human diseases. The discovery of new disease-associated variants can be enhanced by utilizing powerful and computationally efficient statistical methods. In this paper, we propose a functional analysis of variance (FANOVA) method for testing an association of sequence variants in a
RESEARCH ARTICLE Novel GATA6 Mutations in Patients with
"... Patients with pancreatic agenesis are born without a pancreas, causing permanent neona-tal diabetes and pancreatic enzyme insufficiency. These patients require insulin and en-zyme replacement therapy to survive, grow, and maintain normal blood glucose levels. Pancreatic agenesis is an uncommon condi ..."
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whole exome sequencing on both patients. For each proband we identified a de novo heterozygous mutation in the GATA6 gene. GATA6 is a homeobox containing tran-scription factor involved in both early development of the pancreas and heart. In vitro func-tional analysis of one of the variants revealed
dbNSFP: A Lightweight Database of Human Nonsynonymous SNPs and Their Functional Predictions
, 2011
"... ABSTRACT: With the advance of sequencing technologies, whole exome sequencing has increasingly been used to identify mutations that cause human diseases, especially rare Mendelian diseases. Among the analysis steps, functional prediction (of being deleterious) plays an important role in filtering or ..."
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ABSTRACT: With the advance of sequencing technologies, whole exome sequencing has increasingly been used to identify mutations that cause human diseases, especially rare Mendelian diseases. Among the analysis steps, functional prediction (of being deleterious) plays an important role in filtering
Results 1 - 10
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