The usefulness of whole-exome sequencing in routine clinical practice

Genetics in Medicine

Volumn 16, Issue 12, 2014, Pages 922-931

  Iglesias, Alejandro ^a   Anyane Yeboa, Kwame ^a   Wynn, Julia ^a   Wilson, Ashley ^b   Truitt Cho, Megan ^b   Guzman, Edwin ^b   Sisson, Rebecca ^b   Egan, Claire ^b   Chung, Wendy K ^a  

^a NewYork Presbyterian Hospital   (United States)

^b NEW YORK PRESBYTERIAN HOSPITAL   (United States)

Author keywords

clinical evaluation; genetic testing; undiagnosed genetic disorders; whole exome sequencing

Indexed keywords

ADOLESCENT; ADULT; AGE; ARTICLE; AUTISM; BIRTH DEFECT; BONE DYSPLASIA; CARDIOMYOPATHY; CLINICAL DECISION MAKING; CLINICAL PRACTICE; CONSANGUINITY; DEVELOPMENTAL DISORDER; ETHNICITY; EYE DISEASE; FAMILY HISTORY; FEASIBILITY STUDY; FEMALE; GENDER; GENE MUTATION; HEALTH INSURANCE; HEARING IMPAIRMENT; HUMAN; INFANT; LABORATORY DIAGNOSIS; MAJOR CLINICAL STUDY; MALE; MEDICAL RECORD REVIEW; METABOLIC DISORDER; MYOPATHY; NEOPLASM; NEUROLOGIC DISEASE; NEWBORN; PATIENT CARE; SEIZURE; SEQUENCE ANALYSIS; SUDDEN DEATH; WHOLE EXOME SEQUENCING; CHILD; DEVELOPMENTAL DISABILITIES; EXOME; GENETIC SCREENING; GENETICS; HIGH THROUGHPUT SEQUENCING; KARYOTYPING; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; PREGNANCY; PRESCHOOL CHILD; PROCEDURES; REPRODUCIBILITY; RETROSPECTIVE STUDY; YOUNG ADULT;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; DEVELOPMENTAL DISABILITIES; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; GENETIC TESTING; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; INFANT, NEWBORN; KARYOTYPING; MALE; MUTATION; PEDIGREE; PHENOTYPE; PREGNANCY; REPRODUCIBILITY OF RESULTS; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 84918793267     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2014.58     Document Type: Article

References (15)

1. Jacob HJ, Abrams K, Bick DP, et al. Genomics in clinical practice: lessons from the front lines. Sci Transl Med 2013 5:194
2. Shashi V, McConkie-Rosell A, Rosell B, et al. The utility of the traditional medical genetics diagnostic evaluation in the context of nextgeneration sequencing for undiagnosed genetic disorders. Genet Med 2014;16:176-182
3. Green RC, Berg JS, Grody WW, et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 2013;15:565-574
4. Yang Y, Muzny DM, Reid JG, et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med 2013;369:1502-1511
5. Dimmock D. Whole genome sequencing: a considered approach to clinical implementation. Curr Protoc Hum Genet 2013;Chapter 9:Unit 9.22
6. Yu Y, Wu BL, Wu J, Shen Y. Exome and whole-genome sequencing as clinical tests: a transformative practice in molecular diagnostics. Clin Chem 2012;58:1507-1509
7. Thompson R, Drew CJ, Thomas RH. Next generation sequencing in the clinical domain: clinical advantages, practical, and ethical challenges. Adv Protein Chem Struct Biol 2012;89:27-63
8. de Ligt J, Willemsen MH, van Bon BW, et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 2012;367:1921-1929
9. Rauch A, Wieczorek D, Graf E, et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet 2012;380:1674-1682
10. Sarig O, Goldsher D, Nousbeck J, et al. Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1. Am J Med Genet A 2013;161:2204-2215
11. Aoki Y, Niihori T, Banjo T, et al. Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. Am J Hum Genet 2013;93:173-180
12. Lehtonen HJ, Sipponen T, Tojkander S, et al. Segregation of a missense variant in enteric smooth muscle actin a-2 with autosomal dominant familial visceral myopathy. Gastroenterology 2012;143:1482-1491.e3
13. Tuzovic L, Anyane-Yeboa K, Mills A, Glassberg K, Miller R. Megacystismicrocolon-intestinal hypoperistalsis syndrome: case report and review of prenatal ultrasonographic findings. Fetal Diagn Ther 2014; e-pub ahead of print 21 February 2014
14. Rohena L, Neidich J, Cho T, et al. Mutation in SNAP-25 as a novel genetic cause of epilepsy and intellectual disability. Rare Dis 2013; 1:e26314; doi: 10.4161/rdis.26314
15. Christopher KJ, Wang B, Kong Y, Weatherbee SD. Forward genetics uncovers Transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signaling. Dev Biol 2012;368:382-392