Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis

Statins Downregulate K6a Promoter Activity: A Possible Therapeutic Avenue for Pachyonychia Congenita

(2011) Yiwei Zhao et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Mevalonate Kinase Deficiency: A Survey of 50 Patients

(2011) B. Bader-Meunier et al.   PEDIATRICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

A novel locus for disseminated superficial actinic porokeratosis maps to chromosome 16q24.1-24.3

(2010) Jing Luan et al.   HUMAN GENETICS

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

(2010) Gregory M Cooper et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

SOAP2: an improved ultrafast tool for short read alignment

(2009) R. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

SNP detection for massively parallel whole-genome resequencing

(2009) R. Li et al.   GENOME RESEARCH

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

SOAP: short oligonucleotide alignment program

(2008) R. Li et al.   BIOINFORMATICS

Identification of a genetic locus for autosomal dominant disseminated superficial actinic porokeratosis on chromosome 1p31.3–p31.1

(2008) Ping Liu et al.   HUMAN GENETICS