Concepedia

Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes

Lídia Feliubadaló, Adriana López‐Doriga, Ester Castellsagué, Jesús Del Valle, Mireia Menéndez, Eva Tornero, Eva Montes, Raquel Cuesta, Olga Campos, Marta Pineda,

European Journal of Human Genetics · 2012 · 113 citations · 18 references

DOIFull text

Open access

Concepts

References

18

<tt>BLAT</tt>—The <tt>BLAST</tt>-Like Alignment Tool

W. James Kent · Genome Research · 2002 · 8.4K citations · Full text

, , +16

Breast and Ovarian Cancer Risks Due to Inherited Mutations in <i>BRCA1</i> and <i>BRCA2</i>

Mary‐Claire King, Joan H. Marks, Jessica B. Mandell · Science · 2003 · 2.2K citations

, , +17

An integrated semiconductor device enabling non-optical genome sequencing

Jonathan M. Rothberg, Wolfgang Hinz, Todd M. Rearick et al. · Nature · 2011 · 2.2K citations · Full text

, , +16

Performance comparison of benchtop high-throughput sequencing platforms

Nicholas J. Loman, Raju Misra, Timothy J. Dallman et al. · Nature Biotechnology · 2012 · 1.4K citations

, , +11

Accuracy and quality of massively parallel DNA pyrosequencing

Susan M. Huse, Julie A. Huber, Hilary G. Morrison et al. · Genome biology · 2007 · 1.3K citations · Full text

, , +17