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
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Genome Biology, 2011 Exome sequencing is rapidly expanding both as a technique and in its biological applications.
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Whole-Exome Enrichment with the Illumina TruSeq Exome Enrichment Platform [PDF]
Cold Spring Harbor Protocols, 2015 Multiple platforms are available for whole-exome enrichment and sequencing (WES). This protocol is based on the Illumina TruSeq Exome Enrichment platform, which captures ∼62 Mb of the human exonic regions using 95-base DNA probes. In addition to covering the RefSeq and Ensembl coding sequences, the enriched sequences also include ∼28 Mb of RefSeq ...
Rui, Chen, Hogune, Im, Michael, Snyder
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Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies [PDF]
, 2018 Objective: The aim of this study was the clinical and molecular characterization of a family segregating a trait consisting of a phenotype specifically involving the maxillary canines, including agenesis, impaction and ectopic eruption, characterized by ...
Barbato, Ersilia +12 more
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Are Mutations in the DHRS9 Gene Causally Linked to Epilepsy? A Case Report
Medicina, 2020 The DHRS9 gene is involved in several pathways including the synthesis of allopregnanolone from progesterone. Allopregnanolone is a positive modulator of gamma aminobutyric acid (GABA) action and plays a role in the control of neuronal excitability and ...
Francesco Calì +8 more
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Rinsho Shinkeigaku, 2010 Over the years there have been many different approaches and techniques that have been utilized to gather genetic information on family and patient data. Early on these focused on using family information and the pattern of inheritance of the disease in the family.
Karen, Nuytemans, Jeffery M, Vance
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Genetics of pediatric hearing loss: A functional perspective
Laryngoscope Investigative Otolaryngology, 2020 Objectives This article reviews the current role of genetics in pediatric hearing loss (HL). Methods A review of the current literature regarding the genetic basis of HL in children was performed.
Harmon Khela, Margaret A. Kenna
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De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development [PDF]
, 2017 Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects.
A Javed +97 more
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Whole exome and targeted deep sequencing identify genome-wide allelic loss and frequent SETDB1 mutations in malignant pleural mesotheliomas. [PDF]
, 2016 Malignant pleural mesothelioma (MPM), a rare malignancy with a poor prognosis, is mainly caused by exposure to asbestos or other organic fibers, but the underlying genetic mechanism is not fully understood.
Fang, Li Tai +11 more
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Clinical exome sequencing—Mistakes and caveats [PDF]
Human Mutation, 2022 Massive parallel sequencing technology has become the predominant technique for genetic diagnostics and research. Many genetic laboratories have wrestled with the challenges of setting up genetic testing workflows based on a completely new technology.
Corominas, J. +7 more
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