Using whole-exome sequencing to identify variants inherited from mosaic parents

European Journal of Human Genetics

Volumn 23, Issue 4, 2015, Pages 547-550

  Rios, Jonathan J ^a,b,c   Delgado, Mauricio R ^a,b  

^a TEXAS SCOTTISH RITE HOSPITAL FOR CHILDREN   (United States)

^b UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^c UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; DOMINANT GENE; DOMINANT INHERITANCE; EXOME; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; MOSAICISM; PARENT; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; WHOLE EXOME SEQUENCE; ALLELE; DNA MICROARRAY; DNA SEQUENCE; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETIC SCREENING; GENOTYPE; PROCEDURES; SINGLE NUCLEOTIDE POLYMORPHISM;

ALLELES; EXOME; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENOTYPE; HUMANS; MOSAICISM; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PARENTS; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA;

EID: 84924753030     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.125     Document Type: Article

References (19)

1. McCarthy MI, Abecasis GR, Cardon LR et al: Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet 2008; 9: 356-369.
2. Hindorff LA, Sethupathy P, Junkins HA et al: Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci USA 2009; 106: 9362-9367.
3. Boycott KM, Vanstone MR, Bulman DE, MacKenzie AE: Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nat Rev Genet 2013; 14: 681-691.
4. Bamshad MJ, Ng SB, Bigham AW et al: Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet 2011; 12: 745-755.
5. Dixon-Salazar TJ, Silhavy JL, Udpa N et al: Exome sequencing can improve diagnosis and alter patient management. Sci Transl Med 2012; 4: 138ra178.
6. Jacob HJ, Abrams K, Bick DP et al: Genomics in clinical practice: lessons from the front lines. Sci Transl Med 2013; 5: 194cm195.
7. 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.
8. Gahl WA, Markello TC, Toro C et al: The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases. Genet Med 2012; 14: 51-59.
9. Lupski JR: Genetics. Genome mosaicism-one human, multiple genomes. Science 2013; 341: 358-359.
10. Li H, Durbin R: Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009; 25: 1754-1760.
11. Li H, Handsaker B, Wysoker A et al: The Sequence Alignment/Map format and SAMtools. Bioinformatics 2009; 25: 2078-2079.
12. McKenna A, Hanna M, Banks E et al: The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 2010; 20: 1297-1303.
13. Simons C, Wolf NI, McNeil N et al: A de novo mutation in the beta-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. Am J Hum Genet 2013; 92: 767-773.
14. Vissers LE, de Ligt J, Gilissen C et al: A de novo paradigm for mental retardation. Nat Genet 2010; 42: 1109-1112.
15. O'Roak BJ, Deriziotis P, Lee C et al: Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet 2011; 43: 585-589.
16. Neale BM, Kou Y, Liu L et al: Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 2012; 485: 242-245.
17. Girard SL, Gauthier J, Noreau A et al: Increased exonic de novo mutation rate in individuals with schizophrenia. Nat Genet 2011; 43: 860-863.
18. Rump A, Hildebrand L, Tzschach A, Ullmann R, Schrock E, Mitter D: A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring. Eur J Hum Genet 2013; 21: 887-890.
19. Alsina L, Gonzalez-Roca E, Giner MT et al: Massively parallel sequencing reveals maternal somatic IL2RG mosaicism in an X-linked severe combined immunodeficiency family. J Allergy Clin Immunol 2013; 132: 741-743. e2.