Portal de Periódicos da CAPES

Genomics Ruins a Genre

2016; Future Medicine; Volume: 13; Issue: 3 Linguagem: Catalão

10.2217/pme-2016-0001

1744-828X

Benjamin D. Solomon,

Genomic variations and chromosomal abnormalities

Personalized MedicineVol. 13, No. 3 CommentaryGenomics ruins a genreBenjamin D SolomonBenjamin D Solomon*Author for correspondence: E-mail Address: benjamin.solomon@;inova.org Division of Medical Genomics, Inova Translational Medicine Institute, Falls Church, VA, USA Inova Children's Hospital, Falls Church, VA, USA Department of Pediatrics, Virginia Commonwealth University School of Medicine, Richmond, VA, USAPublished Online:22 Mar 2016https://doi.org/10.2217/pme-2016-0001AboutSectionsView ArticleView Full TextPDF/EPUB ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareShare onFacebookTwitterLinkedInReddit View articleKeywords: exomegenomegenomicsmedical mysterywhole-genome sequencingPapers of special note have been highlighted as: • of interest; •• of considerable interestReferences1 Biesecker LG, Green RC. Diagnostic clinical genome and exome sequencing. N. Engl. J. Med. 370(25), 2418–2425 (2014). • Provides a helpful review of the clinical applications of genomic techniques.Crossref, Medline, Google Scholar2 Taylor JC, Martin HC, Lise S et al. Factors influencing success of clinical genome sequencing across a broad spectrum of disorders. Nat. Genet. 47(7), 717–726 (2015). •• Describes and compares several related approaches to diagnosis via genome sequencing.Crossref, Medline, CAS, Google Scholar3 Solomon BD. Obstacles and opportunities for the future of genomic medicine. Mol. Genet. Genomic Med. 2(3), 205–209 (2014).Crossref, Medline, Google Scholar4 Yang Y, Muzny DM, Xia F et al. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA 312(18), 1870–1879 (2014). • This article (and the one below) details the diagnostic rate for a large series of patients undergoing exome sequencing.Crossref, Medline, CAS, Google Scholar5 Yang Y, Muzny DM, Reid JG et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N. Engl. J. Med. 369(16), 1502–1511 (2013). • This article (and the one above) details the diagnostic rate for a large series of patients undergoing exome sequencing.Crossref, Medline, CAS, Google Scholar6 Washington Post "Medical Mysteries" column. www.washingtonpost.com/sf/national/collection/medical-mysteries/.Google Scholar7 New York Times's "Think Like a Doctor" column. http://well.blogs.nytimes.com/category/live/doctors/think-like-a-doctor-doctors/.Google Scholar8 "Mystery Diagnosis" television show. www.discoverylife.com/tv-shows/mystery-diagnosis/.Google Scholar9 Bidichandani SI, Delatycki MB. Friedreich ataxia. In: GeneReviews®. Pagon RA, Adam MP, Ardinger HH et al. (Eds). University of Washington, Seattle, WA, USA (2014).Google Scholar10 "House" television show. www.usanetwork.com/house.Google Scholar11 Ley BL, Jankowski N, Brewer PR. Investigating CSI: portrayals of DNA testing on a forensic crime show and their potential effects. Public Underst. Sci. 21(1), 51–67 (2012).Crossref, Medline, Google Scholar12 Solomon BD, Nguyen AD, Bear KA, Wolfsberg TG. Clinical genomic database. Proc. Natl Acad. Sci. USA 110(24), 9851–9855 (2013). •• This article (and accompanying database) describes and annotates the clinical utility of identifying the molecular causes for all known Mendelian/monogenic disorders.Crossref, Medline, CAS, Google Scholar13 Solomon BD. Genomic sequencing and the impact of molecular diagnosis on patient care. Mol. Syndromol. 6(1), 4–6 (2015). • Quantifies the clinical utility of identifying the molecular causes known Mendelian/monogenic disorders.Medline, CAS, Google Scholar14 Tabor HK, Berkman BE, Hull SC, Bamshad MJ. Genomics really gets personal: how exome and whole genome sequencing challenge the ethical framework of human genetics research. Am. J. Med. Genet. A 155A(12), 2916–2924 (2011).Crossref, Medline, Google Scholar15 Bodian DL, Klein E, Iyer RK et al. Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates. Genet. Med. doi:10.1038/gim.2015.111 (2015) (Epub ahead of print).Medline, Google Scholar16 Botkin JR, Belmont JW, Berg JS et al. Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. Am. J. Hum. Genet. 97(1), 6–21 (2015). •• Describes a number of important considerations related to the clinical (as well as research) implications of genetic testing, including genomic sequencing, in the pediatric population.Crossref, Medline, CAS, Google Scholar17 MacArthur DG, Manolio TA, Dimmock DP et al. Guidelines for investigating causality of sequence variants in human disease. Nature 508(7497), 469–476 (2014). • Provides guidelines related to standards for assessing genetic variants related to the challenging question of disease causality.Crossref, Medline, CAS, Google Scholar18 Dagli AI, Mueller J, Williams CA. Angelman syndrome. In: GeneReviews®. Pagon RA, Adam MP, Ardinger HH et al. (Eds). University of Washington, Seattle, WA, USA (2015).Google Scholar19 Driscoll DJ, Miller JL, Schwartz S, Cassidy SB. Prader–Willi syndrome. In: GeneReviews®. Pagon RA, Adam MP, Ardinger HH et al. (Eds). University of Washington, Seattle, WA, USA (2014).Google Scholar20 Saal HM. Russell–Silver syndrome. In: GeneReviews®. Pagon RA, Adam MP, Ardinger HH et al. (Eds). University of Washington, Seattle, WA, USA (2011).Google ScholarFiguresReferencesRelatedDetails Vol. 13, No. 3 Follow us on social media for the latest updates Metrics Downloaded 53 times History Published online 22 March 2016 Published in print May 2016 Information© Future Medicine LtdKeywordsexomegenomegenomicsmedical mysterywhole-genome sequencingAcknowledgementsThe author would like to express his gratitude to Brian J Hays for his inspiration and insight.Financial & competing interests disclosureThe author has no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.No writing assistance was utilized in the production of this manuscript.PDF download