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https://www.readbyqxmd.com/read/28535206/clinical-exome-sequencing-reports-current-informatics-practice-and-future-opportunities
#1
Rajeswari Swaminathan, Yungui Huang, Caroline Astbury, Sara Fitzgerald-Butt, Katherine Miller, Justin Cole, Christopher Bartlett, Simon Lin
The increased adoption of clinical whole exome sequencing (WES) has improved the diagnostic yield for patients with complex genetic conditions. However, the informatics practice for handling information contained in whole exome reports is still in its infancy, as evidenced by the lack of a common vocabulary within clinical sequencing reports generated across genetic laboratories. Genetic testing results are mostly transmitted using portable document format, which can make secondary analysis and data extraction challenging...
May 23, 2017: Journal of the American Medical Informatics Association: JAMIA
https://www.readbyqxmd.com/read/28513612/insertion-of-alu-elements-at-a-pten-hotspot-in-cowden-syndrome
#2
Louise Crivelli, Virginie Bubien, Natalie Jones, Jennifer Chiron, Françoise Bonnet, Emmanuelle Barouk-Simonet, Patrice Couzigou, Nicolas Sevenet, Frédéric Caux, Michel Longy
Cowden syndrome (CS) is an inherited autosomal dominant disorder associated with germline pathogenic variants of the PTEN tumor suppressor gene. Its phenotypical expression is highly variable and the existence of patients with a CS suggestive phenotype without pathogenic PTEN variant may be related to genetic heterogeneity. In order to explore this hypothesis through the detection of potentially deleterious variants enabling us to identify a new candidate gene, we performed whole-exome sequencing (WES) in a series of 22 CS patients without detectable PTEN pathogenic variant using conventional methods for mutation screening...
May 17, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28512305/mutation-screening-in-genes-known-to-be-responsible-for-retinitis-pigmentosa-in-98-small-han-chinese-families
#3
Lulin Huang, Qi Zhang, Xin Huang, Chao Qu, Shi Ma, Yao Mao, Jiyun Yang, You Li, Yuanfeng Li, Chang Tan, Peiquan Zhao, Zhenglin Yang
Retinitis pigmentosa (RP) is highly heterogeneous in both clinical and genetic fields. Accurate mutation screening is very beneficial in improving clinical diagnosis and gene-specific treatment of RP patients. The reason for the difficulties in genetic diagnosis of RP is that the ethnic-specific mutation databases that contain both clinical and genetic information are largely insufficient. In this study, we recruited 98 small Han Chinese families clinically diagnosed as RP, including of 22 dominant, 19 recessive, 52 sporadic, and five X-linked...
May 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28510120/obscurin-variants-and-inherited-cardiomyopathies
#4
REVIEW
Steven Marston
The inherited cardiomyopathies, hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM) and left ventricular non-compaction (LVNC), have been frequently associated with mutations in sarcomeric proteins. In recent years, advances in DNA sequencing technology has allowed the study of the giant proteins of the sarcomere, such as titin and nebulin. Obscurin has been somewhat neglected in these studies, largely because its functional role is far from clear, although there was an isolated report in 2007 of obscurin mutations associated with HCM...
May 5, 2017: Biophysical Reviews
https://www.readbyqxmd.com/read/28505269/new-mutations-in-non-syndromic-primary-ovarian-insufficiency-patients-identified-via-whole-exome-sequencing
#5
Liliana Catherine Patiño, Isabelle Beau, Carolina Carlosama, July Constanza Buitrago, Ronald González, Carlos Fernando Suárez, Manuel Alfonso Patarroyo, Brigitte Delemer, Jacques Young, Nadine Binart, Paul Laissue
STUDY QUESTION: Is it possible to identify new mutations potentially associated with non-syndromic primary ovarian insufficiency (POI) via whole-exome sequencing (WES)? SUMMARY ANSWER: WES is an efficient tool to study genetic causes of POI as we have identified new mutations, some of which lead to protein destablization potentially contributing to the disease etiology. WHAT IS KNOWN ALREADY: POI is a frequently occurring complex pathology leading to infertility...
May 13, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28502589/a-case-of-a-novel-mutation-in-hnf1%C3%AE-related-maturity-onset-diabetes-of-the-young-type-5-with-diabetic-kidney-disease-complication-in-a-chinese-family
#6
Yiting Wang, Yingwang Zhao, Junlin Zhang, Yuxiang Yang, Fang Liu
AIMS: Precise diagnosis of maturity-onset diabetes of the young (MODY) has proven valuable for understanding mechanism of diabetes and selecting optimal therapy. A proband and her mother with diabetic kidney disease (DKD) were studied to investigate potential genes responsible for diabetes and different severity of DKD between the parent and offspring. METHODS: The family with suspected MODY underwent mutational analyses by the whole exome sequencing (WES). Candidate pathogenic variants were validated by Sanger sequencing and tested for co-segregation...
November 15, 2016: Journal of Diabetes and its Complications
https://www.readbyqxmd.com/read/28495692/shared-genetic-predisposition-in-rheumatoid-arthritis-interstitial-lung-disease-and-familial-pulmonary-fibrosis
#7
Pierre-Antoine Juge, Raphaël Borie, Caroline Kannengiesser, Steven Gazal, Patrick Revy, Lidwine Wemeau-Stervinou, Marie-Pierre Debray, Sébastien Ottaviani, Sylvain Marchand-Adam, Nadia Nathan, Gabriel Thabut, Christophe Richez, Hilario Nunes, Isabelle Callebaut, Aurélien Justet, Nicolas Leulliot, Amélie Bonnefond, David Salgado, Pascal Richette, Jean-Pierre Desvignes, Huguette Lioté, Philippe Froguel, Yannick Allanore, Olivier Sand, Claire Dromer, René-Marc Flipo, Annick Clément, Christophe Béroud, Jean Sibilia, Baptiste Coustet, Vincent Cottin, Marie-Christophe Boissier, Benoit Wallaert, Thierry Schaeverbeke, Florence Dastot le Moal, Aline Frazier, Christelle Ménard, Martin Soubrier, Nathalie Saidenberg, Dominique Valeyre, Serge Amselem, Catherine Boileau, Bruno Crestani, Philippe Dieudé
Despite its high prevalence and mortality, little is known about the pathogenesis of rheumatoid arthritis-associated interstitial lung disease (RA-ILD). Given that familial pulmonary fibrosis (FPF) and RA-ILD frequently share the usual pattern of interstitial pneumonia and common environmental risk factors, we hypothesised that the two diseases might share additional risk factors, including FPF-linked genes. Our aim was to identify coding mutations of FPF-risk genes associated with RA-ILD.We used whole exome sequencing (WES), followed by restricted analysis of a discrete number of FPF-linked genes and performed a burden test to assess the excess number of mutations in RA-ILD patients compared to controls...
May 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/28494031/evaluation-of-pink-and-white-esthetic-scores-for-immediately-placed-and-provisionally-restored-implants-in-the-anterior-maxilla
#8
Guaracilei Maciel Vidigal, Mario Groisman, Victor Grover Clavijo, Igor Guimarães Barros Paulinelli Santos, Ricardo Guimarães Fischer
PURPOSE: To evaluate the esthetic result of immediately placed implants with immediate provisional restorations in the anterior maxilla using the pink esthetic score (PES) and white esthetic score (WES). MATERIALS AND METHODS: The records of patients were evaluated retrospectively. The evaluation was carried out by two examiners using 12 evaluation criteria. RESULTS: The average PES value from the evaluation of 53 images obtained from the 53 selected patients (22 men and 31 women) was 8...
May 2017: International Journal of Oral & Maxillofacial Implants
https://www.readbyqxmd.com/read/28493158/common-variable-immunodeficiency-caused-by-fanc-mutations
#9
Yujin Sekinaka, Noriko Mitsuiki, Kohsuke Imai, Miharu Yabe, Hiromasa Yabe, Kanako Mitsui-Sekinaka, Kenichi Honma, Masatoshi Takagi, Ayako Arai, Kenichi Yoshida, Yusuke Okuno, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Hideki Muramatsu, Seiji Kojima, Asuka Hira, Minoru Takata, Osamu Ohara, Seishi Ogawa, Tomohiro Morio, Shigeaki Nonoyama
Common variable immunodeficiency (CVID) is the most common adult-onset primary antibody deficiency disease due to various causative genes. Several genes, which are known to be the cause of different diseases, have recently been reported as the cause of CVID in patients by performing whole exome sequencing (WES) analysis. Here, we found FANC gene mutations as a cause of adult-onset CVID in two patients. B cells were absent and CD4(+) T cells were skewed toward CD45RO(+) memory T cells. T-cell receptor excision circles (TRECs) and signal joint kappa-deleting recombination excision circles (sjKRECs) were undetectable in both patients...
May 11, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28492530/a-comprehensive-strategy-for-exome-based-preconception-carrier-screening
#10
Suzanne C E H Sallevelt, Bart de Koning, Radek Szklarczyk, Aimee D C Paulussen, Christine E M de Die-Smulders, Hubert J M Smeets
PURPOSE: Whole-exome sequencing (WES) provides the possibility of genome-wide preconception carrier screening (PCS). Here, we propose a filter strategy to rapidly identify the majority of relevant pathogenic mutations. METHODS: Our strategy was developed using WES data from eight consanguineous and five fictive nonconsanguineous couples and was subsequently applied to 20 other fictive nonconsanguineous couples. Presumably pathogenic variants based on frequency and database annotations or generic characteristics and mutation type were selected in genes shared by the couple and in the female's X-chromosome...
May 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28492244/quantum-physics-atomic-envoy-enables-molecular-control
#11
Wes Campbell
No abstract text is available yet for this article.
May 10, 2017: Nature
https://www.readbyqxmd.com/read/28491899/diagnostic-and-cost-utility-of-whole-exome-sequencing-in-peripheral-neuropathy
#12
Maie Walsh, Katrina M Bell, Belinda Chong, Emma Creed, Gemma R Brett, Kate Pope, Natalie P Thorne, Simon Sadedin, Peter Georgeson, Dean G Phelan, Timothy Day, Jessica A Taylor, Adrienne Sexton, Paul J Lockhart, Lynette Kiers, Michael Fahey, Ivan Macciocca, Clara L Gaff, Alicia Oshlack, Eppie M Yiu, Paul A James, Zornitza Stark, Monique M Ryan
OBJECTIVE: To explore the diagnostic utility and cost effectiveness of whole exome sequencing (WES) in a cohort of individuals with peripheral neuropathy. METHODS: Singleton WES was performed in individuals recruited though one pediatric and one adult tertiary center between February 2014 and December 2015. Initial analysis was restricted to a virtual panel of 55 genes associated with peripheral neuropathies. Patients with uninformative results underwent expanded analysis of the WES data...
May 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28490092/the-contribution-of-wine-derived-monoterpene-glycosides-to-retronasal-odour-during-tasting
#13
Mango Parker, Cory A Black, Alice Barker, Wes Pearson, Yoji Hayasaka, I Leigh Francis
This study investigated the sensory significance of monoterpene glycosides during tasting, by retronasal perception of odorant aglycones released in-mouth. Monoterpene glycosides were isolated from Gewürztraminer and Riesling juices and wines, chemically characterised and studied using sensory time-intensity methodology, together with a synthesised monoterpene glucoside. When assessed in model wine at five times wine-like concentration, Gewürztraminer glycosides and geranyl glucoside gave significant fruity flavour, although at wine-like concentrations, or in the presence of wine volatiles, the effect was not significant...
October 1, 2017: Food Chemistry
https://www.readbyqxmd.com/read/28489334/diagnosis-of-copan-by-whole-exome-sequencing-waking-up-a-sleeping-tiger-s-eye
#14
Christina Evers, Angelika Seitz, Birgit Assmann, Thomas Opladen, Stephanie Karch, Katrin Hinderhofer, Martin Granzow, Nagarajan Paramasivam, Roland Eils, Nicolle Diessl, Claus R Bartram, Ute Moog
Neurodegeneration with brain iron accumulation (NBIA) is a group of neurodegenerative disorders characterized by iron accumulation in the basal ganglia. Recently, mutations in CoA synthase (COASY) have been identified as a cause of a novel NBIA subtype (COASY Protein-Associated Neurodegeneration, CoPAN) in two patients with dystonic paraparesis, parkinsonian features, cognitive impairment, behavior abnormalities, and axonal neuropathy. COASY encodes an enzyme required for Coenzyme A (CoA) biosynthesis. Using whole exome sequencing (WES) we identified compound heterozygous COASY mutations in two siblings with intellectual disability, ataxic gait, progressive spasticity, and obsessive-compulsive behavior...
May 10, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28487569/novel-mutations-in-adsl-for-adenylosuccinate-lyase-deficiency-identified-by-the-combination-of-trio-wes-and-constantly-updated-guidelines
#15
Xiao Mao, Kai Li, Beisha Tang, Yang Luo, Dongxue Ding, Yuwen Zhao, Chunrong Wang, Xiaoting Zhou, Zhenhua Liu, Yuan Zhang, Puzhi Wang, Qian Xu, Qiying Sun, Kun Xia, Xinxiang Yan, Hong Jiang, Shen Lu, Jifeng Guo
Whole-exome sequencing (WES), one of the next-generation sequencing (NGS), has become a powerful tool to identify exonic variants. Investigating causality of the sequence variants in human disease becomes an important part in NGS for the research and clinical applications. Recently, important guidelines on them have been published and will keep on updating. In our study, two Chinese families, with the clinical diagnosis of "Epilepsy", which presented with seizures, psychomotor retardation, hypotonia and etc...
May 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28486633/development-of-a-murine-vertical-transmission-model-for-toxoplasma-gondii-oocyst-infection-and-studies-on-the-efficacy-of-bumped-kinase-inhibitor-bki-1294-and-the-naphthoquinone-buparvaquone-against-congenital-toxoplasmosis
#16
Joachim Müller, Adriana Aguado-Martínez, Luis-Miguel Ortega-Mora, Javier Moreno-Gonzalo, Ignacio Ferre, Matthew A Hulverson, Ryan Choi, Molly C McCloskey, Lynn K Barrett, Dustin J Maly, Kayode K Ojo, Wes Van Voorhis, Andrew Hemphill
Objectives: Establishment of a mouse model for congenital toxoplasmosis based on oral infection with oocysts from Toxoplasma gondii ME49 and its application for investigating chemotherapeutic options against congenital toxoplasmosis. Methods: CD1 mice were mated, orally infected with 5, 25, 100, 500 or 2000 oocysts and monitored for clinical signs and survival of dams and pups until 4 weeks post partum . The parasite burden in infected mice was quantified by real-time PCR in lungs, brains and, in the case of surviving pups, also in eyes...
May 9, 2017: Journal of Antimicrobial Chemotherapy
https://www.readbyqxmd.com/read/28484309/identification-of-seven-novel-znf469-mutations-in-keratoconus-patients-in-a-han-chinese-population
#17
Xiaoning Yu, Binbin Chen, Xin Zhang, Xingchao Shentu
PURPOSE: To test for the potential presence of novel mutations in the zinc finger protein (ZNF469) gene in patients with sporadic keratoconus (KC) from a Han Chinese population. METHODS: Fifty-three patients with primary KC, 30 patients with high myopia (HM), and 100 unrelated population-matched healthy controls without any ocular or systemic disorders, all of Han Chinese ethnicity, were recruited. Blood samples were donated, and genomic DNA was isolated from peripheral blood leukocytes...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28482758/lesions-caused-by-virulent-aeromonas-hydrophila-in-farmed-catfish-ictalurus-punctatus-and-i-punctatus-%C3%A3-i-furcatus-in-mississippi
#18
Wes A Baumgartner, Lorelei Ford, Larry Hanson
In 2009, a virulent strain of Aeromonas hydrophila caused severe disease and high mortalities (motile aeromonad septicemia variant [MASv]) in farmed channel catfish ( Ictalurus punctatus) and hybrid catfish ( I. punctatus × I. furcatus) in eastern Mississippi and Alabama. As is common in MAS, there is severe hemorrhagic dermatitis with ulceration, as well as abdominal hyperemia, petechiation, and mild ascites. Additional findings in MASv cases include panophthalmitis and orbital cellulitis, leading to ocular rupture, and brains are often hyperemic with mild random acute hemorrhage...
May 1, 2017: Journal of Veterinary Diagnostic Investigation
https://www.readbyqxmd.com/read/28480599/laboratory-accuracy-improvement-in-the-uk-neqas-leucocyte-immunophenotyping-immune-monitoring-programme-an-eleven-year-review-via-longitudinal-mixed-effects-modeling
#19
John Bainbridge, Wes Rountree, Raul Louzao, John Wong, Liam Whitby, Thomas N Denny, David Barnett
BACKGROUND: The United Kingdom National External Quality Assessment Service (UK NEQAS) for Leucocyte Immunophenotyping Immune Monitoring Programme, provides external quality assessment (EQA) to non-U.S. laboratories affiliated with the NIH NIAID Division of AIDS (DAIDS) clinical trials networks. Selected laboratories are required to have oversight, performance monitoring and remediation undertaken by Immunology Quality Assessment (IQA) staff under the DAIDS contract. We examined whether laboratory accuracy improves with longer EQA participation and whether IQA remediation is effective...
May 8, 2017: Cytometry. Part B, Clinical Cytometry
https://www.readbyqxmd.com/read/28475290/whole-exome-sequencing-of-families-with-1q21-1-microdeletion-or-microduplication
#20
Ying Qiao, Chansonette Badduke, Flamingo Tang, David Cowieson, Sally Martell, Suzanne M E Lewis, Maria S Peñaherrera, Wendy P Robinson, Allen Volchuk, Evica Rajcan-Separovic
Recurrent microduplications/microdeletions of 1q21.1 are characterized by variable phenotypes ranging from normal development to developmental delay (DD) and congenital anomalies. Their interpretation is challenging especially in families with affected and unaffected carriers. We used whole exome sequencing (WES) to look for sequence variants in two male probands with inherited 1q21.1 CNVs that could explain their more severe phenotypes. One proband had a 1q21.1 deletion transmitted from maternal grandmother, while the other had a paternal duplication...
May 5, 2017: American Journal of Medical Genetics. Part A
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