Mixed Sequence Reader: A Program for Analyzing DNA Sequences with Heterozygous Base Calling

CHILD: a new tool for detecting low-abundance insertions and deletions in standard sequence traces

(2011) Ilia Zhidkov et al.   NUCLEIC ACIDS RESEARCH

Pathway Analysis of Breast Cancer Genome-Wide Association Study Highlights Three Pathways and One Canonical Signaling Cascade

(2010) Idan Menashe et al.   CANCER RESEARCH

Both copy number and sequence variations affect expression of human DEFB4

(2010) M Groth et al.   GENES AND IMMUNITY

Genomewide Association Studies and Assessment of the Risk of Disease

(2010) Teri A. Manolio   NEW ENGLAND JOURNAL OF MEDICINE

Performance of Common Genetic Variants in Breast-Cancer Risk Models

(2010) Sholom Wacholder et al.   NEW ENGLAND JOURNAL OF MEDICINE

Human papillomavirus in oral leukoplakia is no prognostic indicator of malignant transformation

(2009) Shih-Wei Yang et al.   Cancer Epidemiology

The evolutionary significance of copy number variation in the human genome

(2009) G.H. Perry   CYTOGENETIC AND GENOME RESEARCH

Forensic analysis of autosomal STR markers using Pyrosequencing

(2009) Anna-Maria Divne et al.   Forensic Science International-Genetics

DNA variations in human and medical genetics: 25 years of my experience

(2009) Yusuke Nakamura   JOURNAL OF HUMAN GENETICS

Origins and functional impact of copy number variation in the human genome

(2009) Donald F. Conrad et al.   NATURE

VarDetect: a nucleotide sequence variation exploratory tool

(2008) Chumpol Ngamphiw et al.   BMC BIOINFORMATICS

Genome-based prediction of common diseases: advances and prospects

(2008) A. C. J.W. Janssens et al.   HUMAN MOLECULAR GENETICS

High-resolution mapping of the 8p23.1 beta-defensin cluster reveals strictly concordant copy number variation of all genes

(2008) Marco Groth et al.   HUMAN MUTATION

CGcgh: a tool for molecular karyotyping using DNA microarray-based comparative genomic hybridization (array-CGH)

(2008) Yun-Shien Lee et al.   JOURNAL OF BIOMEDICAL SCIENCE

Human papillomavirus typing with a polymerase chain reaction-based genotyping array compared with type-specific PCR

(2008) Ching-Yu Lin et al.   JOURNAL OF CLINICAL VIROLOGY

Copy-number variations associated with neuropsychiatric conditions

(2008) Edwin H. Cook Jr et al.   NATURE

Rates of evolutionary change in viruses: patterns and determinants

(2008) Siobain Duffy et al.   NATURE REVIEWS GENETICS

Crohn’s disease-Defect in innate defence

(2008) Michael Gersemann et al.   WORLD JOURNAL OF GASTROENTEROLOGY

Decoding of Superimposed Traces Produced by Direct Sequencing of Heterozygous Indels

(2008) Dmitry A. Dmitriev et al.   PLoS Computational Biology