Figure 1: RNA-seq data uses short reads of mRNA which is free of intronic non-coding DNA. These reads must then be aligned back to the reference genome. Credit: Technology Networks. Early RNA-seq ...

1 Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands 2 Department of Clinical Genetics, University Medical ...

It has been estimated that the human genome contains more than 10 million nucleotide positions that have common (defined as >1%) variation between individuals in a population 1. The prevailing ...

Reviewed by Dr. Tomislav Meštrović, MD, Ph.D. The microarray is a recently developed technology used in cancer research and in the pharmacological treatment of other diseases such as oral lesions. In ...

Technological advances in sequencing and single nucleotide polymorphism (SNP) genotyping microarray technology have facilitated advances in forensic analysis beyond short tandem repeat (STR) profiling ...

Consortium members are listed at the end of the Article.

Chromosome 15 imprinting disorders include Prader-Willi (PWS) and Angelman (AS) syndromes, which are caused by absent expression from the paternal and maternal alleles in the chromosome 15q11. 2–q13 ...

Open Health Imaging Foundation Viewer: An Extensible Open-Source Framework for Building Web-Based Imaging Applications to Support Cancer Research Allele-specific copy number alteration (CNA) analysis ...

bDepartment of Pathology, Hospital Universitari Germans Trias i Pujol, C/ Ctra de Canyet s/n, Badalona, Barcelona, Catalonia, Spain cMedical Oncology, Catalan Institute of Oncology (ICO), University ...

A PDMS-based microfluidic linear hydrogel array is developed for multiplexed single nucleotide polymorphism (SNP) detection. A sequence of three-dimensional (3D) hydrogel plugs containing the desired ...

We developed technical, bioinformatic, interpretive, and validation pipelines for whole-exome sequencing in a certified clinical laboratory to identify sequence variants underlying disease phenotypes ...

Corresponding Author: Melanie Bahlo, The Walter and Eliza Hall Institute of Medical Research, Parkville 3052, Victoria, Australia. Phone: 61-3-9345-2630; Fax: 61-3-9347-0852. E-mail: [email protected] ...