Nature

Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an ‘exome-first’ approach

Whole-exome sequencing (WES) is becoming a standard tool not only for genetic research but also clinical diagnosis. Compared with whole genome sequencing (WGS), it is possible to examine more than 20 ...
Labroots

HRD Evaluation and Scoring using OncoScan CNV Assay, a whole-genome microarray research solution

Numerous studies have shown that homologous recombination deficiency (HRD) is a genome-wide biomarker present in high grade ovarian and breast cancers. A cancer therapeutic class, PARP inhibitors, ...
ascopubs.org

MultiChip: A new diagnostic tool to perform gene expression analysis and CNV in one array.

Targeting ER-Golgi homeostasis as a therapeutic strategy in lung cancer. Background: In the routine diagnostic of cancers, the monitoring of the transcriptome and the chromosomal abnormalities becomes ...
Nature

A genome-wide analysis of loss of heterozygosity and chromosomal copy number variation in Proteus syndrome using high-density SNP microarrays

The causes of PS are unknown, but it has been hypothesized that the syndrome is a result of somatic mutations, which are lethal in the non-mosaic state. 8 A genome-wide scan could reveal genetic ...
FierceBiotech

CombiMatrix Corporation Selects Cartagenia BENCHlab CNV Platform to Bolster Expanded Lab Operations

BOSTON, Nov. 1, 2012 /PRNewswire/ -- Cartagenia, the world leader in providing genetic labs and clinicians software-based workflow support for variant assessment, lab reporting, and integration of ...
Pharmabiz

OGT workshop at ESHG highlights impact of exon-level CNV analysis on accurate detection of genetic disorders

Oxford Gene Technology (OGT), The Molecular Genetics Company, held an exclusive workshop exploring the power of exon-focused microarrays in enhancing genetic syndrome research at the recent European ...
Medscape

Microarray-Based Prenatal Diagnosis for the Identification of Fetal Chromosome Abnormalities

JA Rosenfeld is an employee of Signature Genomic Laboratories, a subsidiary of PerkinElmer, Inc. The authors have no other relevant affiliations or financial involvement with any organization or ...
technologynetworks

Macrogen, Inc. Certified as NimbleGen Array Service Provider for Korea

As a CSP, Macrogen will process gDNA samples for CGH/CNV using the complete NimbleGen array CGH workflow which includes the high-resolution NimbleGen MS 200 Microarray Scanner. Due to the company’s ...
technologynetworks

Roche NimbleGen CGH Microarrays Enable the First Maps of Genome-Wide DNA CNV in Dogs

The evolutionary history of dogs (Canis lupus familiaris), domesticated over 14,000 years ago, includes artificial selection, population bottlenecks, and inbreeding, which has resulted in over 400 ...
FierceBiotech

Macrogen, Inc. Certified as NimbleGen Array Service Provider for Korea

MADISON, Wis.--(BUSINESS WIRE)-- Roche NimbleGen (SIX: RO, ROG; OTCQX: RHHBY) announced today that Seoul-based genomic services provider Macrogen, Inc. has officially joined the Roche NimbleGen ...
FiercePharma

Macrogen, Inc. Certified as NimbleGen Array Service Provider for Korea

MADISON, Wis.--(BUSINESS WIRE)-- Roche NimbleGen (SIX: RO, ROG; OTCQX: RHHBY) announced today that Seoul-based genomic services provider Macrogen, Inc. has officially joined the Roche NimbleGen ...