MIPgen: optimized modeling and design of molecular inversion probes for targeted resequencing

Next-generation carrier screening

(2013) Mark A. Umbarger et al.   GENETICS IN MEDICINE

Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation

(2013) J. B. Hiatt et al.   GENOME RESEARCH

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

De novo mutations in histone-modifying genes in congenital heart disease

(2013) Samir Zaidi et al.   NATURE

Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions

(2013) Xander Nuttle et al.   NATURE METHODS

Molecular probe technology detects bacteria without culture

(2012) Richard W Hyman et al.   BMC MICROBIOLOGY

Library-free methylation sequencing with bisulfite padlock probes

(2012) Dinh Diep et al.   NATURE METHODS

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

Tabix: fast retrieval of sequence features from generic TAB-delimited files

(2011) H. Li   BIOINFORMATICS

High-quality DNA sequence capture of 524 disease candidate genes

(2011) P. Shen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Comparison of solution-based exome capture methods for next generation sequencing

(2011) Anna-Maija Sulonen et al.   GENOME BIOLOGY

Comprehensive comparison of three commercial human whole-exome capture platforms

(2011) Asan et al.   GENOME BIOLOGY

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

Molecular inversion probes reveal patterns of 9p21 deletion and copy number aberrations in childhood leukemia

(2009) Joshua D. Schiffman et al.   CANCER GENETICS AND CYTOGENETICS

Targeted bisulfite sequencing reveals changes in DNA methylation associated with nuclear reprogramming

(2009) Jie Deng et al.   NATURE BIOTECHNOLOGY

Digital RNA allelotyping reveals tissue-specific and allele-specific gene expression in human

(2009) Kun Zhang et al.   NATURE METHODS