CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing
Abyzov, A. et al. (2011) CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing. Genome Res., 21, 974-984.
Improving the accuracy and efficiency of identity-by-descent detection in population data
Browning, B.L. and Browning, S.R. (2013) Improving the accuracy and efficiency of identity-by-descent detection in population data. Genetics, 194, 459-471.
A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing
Chen, S. et al. (2013) A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing. Prenat. Diagn., 33, 584-590.
Statistical model for whole genome sequencing and its application to minimally invasive diagnosis of fetal genetic disease
Chu, T. et al. (2009) Statistical model for whole genome sequencing and its application to minimally invasive diagnosis of fetal genetic disease. Bioinformatics, 25, 1244-1250.
Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units
Saunders, C. et al. (2012) Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Sci. Transl. Med., 4, 154ra135.
Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma
Srinivasan, A. et al. (2013) Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma. Am. J.Hum. Genet., 92, 167-176.