Standard enrichment methods for targeted next-generation sequencing in high-repeat genomic regions

Genetics in Medicine

Volumn 15, Issue 11, 2013, Pages 910-911

  Mueller, Patricia W ^a   Lyons, Justine ^a   Kerr, Gregory ^a   Haase, Chad P ^b   Isett, R Benjamin ^b  

^a CENTERS FOR DISEASE CONTROL AND PREVENTION   (United States)

^b EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA FRAGMENT;

AMPLICON; COMPUTER PROGRAM; DISEASES; GENE MUTATION; GENETIC SCREENING; GENOME; HIGH THROUGHPUT SCREENING; HUMAN; HUMAN CELL; LETTER; NEWBORN SCREENING; NEXT GENERATION SEQUENCING; NUCLEOTIDE SEQUENCE; PSEUDOGENE;

CHILD; DNA REPEAT EXPANSION; GENES, RECESSIVE; GENOME, HUMAN; GENOMICS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT, NEWBORN; MUTATION; SEQUENCE ANALYSIS, DNA;

EID: 84887454185     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2013.119     Document Type: Letter

References (3)

1. Bell CJ, Dinwiddie DL, Miller NA, et al. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med 2011;3:65ra4.
2. Nimkarn S, New MI. 21-Hydroxylase-deficient congenital adrenal hyperplasia. Gene Reviews NCBI Bookshelf ID: NBK1171, PMID: 20301350 (Last revision: 2010).
3. Robins T, Bellanne-Chantelot C, Barbaro M, Cabrol S, Wedell A, Lajic S. Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasia. J Mol Med 2007;85:247-255.