TY - JOUR
T1 - NDesign
T2 - Software for study design for the detection of rare variants from next-generation sequencing data
AU - Sugaya, Yuki
AU - Akazawa, Yasuaki
AU - Saito, Akira
AU - Kamitsuji, Shigeo
PY - 2012/10
Y1 - 2012/10
N2 - We developed a software program, NDesign, for the design of a study intended for detecting rare variants from next-generation sequencing (NGS) data. In this study design, the optimal depth of coverage and the average depth of coverage are first evaluated, and then the ability of the designed experiment to obtain a desired power is determined. NDesign has been developed to calculate both these depths, as well as to evaluate the power of the designed experiment. It has a simple implementation in the JavaScript language, and is expected to enable researchers to design optimal NGS studies.
AB - We developed a software program, NDesign, for the design of a study intended for detecting rare variants from next-generation sequencing (NGS) data. In this study design, the optimal depth of coverage and the average depth of coverage are first evaluated, and then the ability of the designed experiment to obtain a desired power is determined. NDesign has been developed to calculate both these depths, as well as to evaluate the power of the designed experiment. It has a simple implementation in the JavaScript language, and is expected to enable researchers to design optimal NGS studies.
KW - next-generation sequencing
KW - rare variant detection
KW - study design
UR - http://www.scopus.com/inward/record.url?scp=84867972906&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84867972906&partnerID=8YFLogxK
U2 - 10.1038/jhg.2012.81
DO - 10.1038/jhg.2012.81
M3 - Article
C2 - 22786579
AN - SCOPUS:84867972906
SN - 1434-5161
VL - 57
SP - 676
EP - 678
JO - Journal of Human Genetics
JF - Journal of Human Genetics
IS - 10
ER -