Whole-exome Sequencing Study of Hypospadias [PDF]
, 2022 ABSTRACTWhile hypospadias is one of the most common male congenital disorders, the missing heritability contributed by rare variants with larger effects is poorly understood. To systematically explore the variant patterns in the developing of hypospadias, we performed whole exome sequencing (WES) in 191 severe hypospadias cohort and three trios ...
Zhongzhong Chen +6 more
openaire +1 more source
Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm [PDF]
, 2013 Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous ciliopathy disorder affecting cilia and sperm motility. A range of ultrastructural defects of the axoneme underlie the disease, which is characterised by chronic respiratory symptoms ...
Alexandros Onoufriadis +45 more
core +3 more sources
Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation. [PDF]
, 2016 Genomic sequence interpretation can miss clinically relevant missense variants for several reasons. Rare missense variants are numerous in the exome and difficult to prioritise. Affected genes may also not have existing disease association.
Dumas, Kevin +13 more
core +2 more sources
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
PLoS ONE, 2014 Exome sequencing provides unprecedented insights into cancer biology and pharmacological response. Here we assess these two parameters for the NCI-60, which is among the richest genomic and pharmacological publicly available cancer cell line databases ...
William C Reinhold +11 more
doaj +1 more source
Frontiers in Genetics, 2021 Background/ObjectivesWhole-exome sequencing is a valuable tool to determine genetic variations that are associated with rare and common health conditions.
Mohammed Dashti +9 more
doaj +1 more source
SECNVs: A Simulator of Copy Number Variants and Whole-Exome Sequences From Reference Genomes
Frontiers in Genetics, 2020 Copy number variants are duplications and deletions of the genome that play an important role in phenotypic changes and human disease. Many software applications have been developed to detect copy number variants using either whole-genome sequencing or ...
Yue Xing +7 more
doaj +1 more source
A computational method for estimating the PCR duplication rate in DNA and RNA-seq experiments. [PDF]
, 2017 BackgroundPCR amplification is an important step in the preparation of DNA sequencing libraries prior to high-throughput sequencing. PCR amplification introduces redundant reads in the sequence data and estimating the PCR duplication rate is important to
Bansal, Vikas
core +2 more sources
Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/Paraganglioma [PDF]
Endocrinology and Metabolism, 2020 Background Pheochromocytoma and paragangliomas (PPGL) are known as tumors with the highest level of heritability, approximately 30% of all cases. Clinical practice guidelines of PPGL recommend genetic testing for germline variants in all patients.
Soo Hyun Seo +9 more
doaj +1 more source
Incidental Medical Information in Whole-Exome Sequencing [PDF]
Pediatrics, 2012 Genomic technologies, such as whole-exome sequencing, are a powerful tool in genetic research. Such testing yields a great deal of incidental medical information, or medical information not related to the primary research target. We describe the management of incidental medical information derived from whole-exome sequencing in the research context. We
Benjamin D, Solomon +11 more
openaire +2 more sources
PCR-free whole exome sequencing: Cost-effective and efficient in detecting rare mutations.
PLoS ONE, 2019 In this study, we describe the development of a PCR-free whole exome sequencing method. Using this method, 2 μg DNA was sufficient for library preparation for whole exome sequencing.
Izumi Yamaguchi +3 more
doaj +1 more source