Standardizing next-generation sequencing experiments and analysis methods

Clinical Chemistry

Volumn 58, Issue 12, 2012, Pages 1720-1722

  Bavarva, Jasmin H ^a   McMahon, Wyatt ^a   Bavarva, Megha J ^a   Karunasena, Enusha ^a   Garner, Harold R ^a  

^a VIRGINIA BIOINFORMATICS INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALGORITHM; CONSENSUS SEQUENCE; COST CONTROL; DNA SEQUENCE; EXOME; GENETIC ASSOCIATION; GENETIC PROCEDURES; GENETIC VARIABILITY; GENOME; GOLD STANDARD; HIGH THROUGHPUT SEQUENCING; LETTER; MOLECULAR CLONING; NEXT GENERATION SEQUENCING; SINGLE NUCLEOTIDE POLYMORPHISM; STANDARDIZATION;

CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; EXOME; HUMANS; REFERENCE STANDARDS; SEQUENCE ANALYSIS, DNA;

EID: 84870348697     PISSN: 00099147     EISSN: 15308561     Source Type: Journal    
DOI: 10.1373/clinchem.2012.189241     Document Type: Letter

References (5)

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2. Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A, et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 2012;485:242-5.
3. O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 2012; 485:246-50.
4. Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 2012; 485:237-41.
5. Darcey S. FDA/NIST gene sequencing standards aim to boost diagnostic development: "The Pink Sheet" DAILY. 2012 Aug 27. http://www. elsevierbi.com/publications/the-pink-sheet-daily/2012/8/27/nistfda-consortium- sets-timeline-for-nextgen-gene-sequencing-reference-materials (Accessed November 2012). An Elsevier Business Intelligence publication.