Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing

Array-based resequencing for mutations causing familial hypercholesterolemia

(2011) Kuan-Rau Chiou et al.   ATHEROSCLEROSIS

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1

(2011) Lars R Jensen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing

(2011) Y. Tsurusaki et al.   JOURNAL OF MEDICAL GENETICS

Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice

(2011) S. Fokstuen et al.   JOURNAL OF MEDICAL GENETICS

Mutations in Myosin Light Chain Kinase Cause Familial Aortic Dissections

(2010) Li Wang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Microindel detection in short-read sequence data

(2010) Peter Krawitz et al.   BIOINFORMATICS

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays

(2010) Prachi Kothiyal et al.   BMC BIOTECHNOLOGY

A novel custom resequencing array for dilated cardiomyopathy

(2010) Rebekah S Zimmerman et al.   GENETICS IN MEDICINE

Design and validation of a metabolic disorder resequencing microarray (BRUM1)

(2010) Christopher K. Bruce et al.   HUMAN MUTATION

Semi-Automated Library Preparation for High-Throughput DNA Sequencing Platforms

(2010) Eveline Farias-Hesson et al.   JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

(2010) Sarah E Calvo et al.   NATURE GENETICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

High-throughput resequencing in the diagnosis of BRCA1/2 mutations using oligonucleotide resequencing microarrays

(2009) Christopher Schroeder et al.   BREAST CANCER RESEARCH AND TREATMENT

Rapid high-throughput human leukocyte antigen typing by massively parallel pyrosequencing for high-resolution allele identification

(2009) Christian Gabriel et al.   HUMAN IMMUNOLOGY

Quantification of rare allelic variants from pooled genomic DNA

(2009) Todd E Druley et al.   NATURE METHODS

Mapping short DNA sequencing reads and calling variants using mapping quality scores

(2008) H. Li et al.   GENOME RESEARCH

Validation of microarray-based resequencing of 93 worldwide mitochondrial genomes

(2008) Anne Hartmann et al.   HUMAN MUTATION