Comprehensive Molecular Diagnosis of Bardet-Biedl Syndrome by High-Throughput Targeted Exome Sequencing

IgH gene rearrangements as plasma biomarkers in Non-Hodgkin's Lymphoma patients

(2015) Jian He et al.   Oncotarget

Targeted exome sequencing of suspected mitochondrial disorders

(2013) D. S. Lieber et al.   NEUROLOGY

Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families

(2013) Xiu-Feng Huang et al.   PLoS One

Use of whole exome and genome sequencing in the identification of genetic causes of primary immunodeficiencies

(2012) Janet Chou et al.   Current Opinion in Allergy and Clinical Immunology

Bardet–Biedl syndrome

(2012) Elizabeth Forsythe et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

In search of triallelism in Bardet–Biedl syndrome

(2012) Leen Abu-Safieh et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

(2012) Claire Redin et al.   JOURNAL OF MEDICAL GENETICS

Genomics and the Eye

(2011) Val C. Sheffield et al.   NEW ENGLAND JOURNAL OF MEDICINE

Recurrent GNAS Mutations Define an Unexpected Pathway for Pancreatic Cyst Development

(2011) J. Wu et al.   Science Translational Medicine

SolexaQA: At-a-glance quality assessment of Illumina second-generation sequencing data

(2010) Murray P Cox et al.   BMC BIOINFORMATICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

Targeted high throughput sequencing of a cancer-related exome subset by specific sequence capture with a fully automated microarray platform

(2010) Daniel Summerer et al.   GENOMICS

MagicViewer: integrated solution for next-generation sequencing data visualization and genetic variation detection and annotation

(2010) H. Hou et al.   NUCLEIC ACIDS RESEARCH

SOAP2: an improved ultrafast tool for short read alignment

(2009) R. Li et al.   BIOINFORMATICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

1000 Genomes Project Promises Closer Look at Variation in Human Genome

(2008) Bridget M. Kuehn   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION