ISCA | GenomeWeb


Members of the International Collaboration for Clinical Genetics gathered earlier this month to discuss the aims of a proposed effort to develop a database of genomic variation.

The International Standards for Cytogenomic Arrays consortium has changed its name to reflect new collaborations with laboratories that rely mainly on next-generation sequencing, as well as with clinical geneticists for whom data interpretation and counseling, rather than technol

Some geneticists who use arrays hope the new guidelines, which ACMG updated this month, will prompt other labs to adopt the technology and compel insurance firms to reimburse for the tests.

The addition of SNP content will further enable cytogeneticists using Agilent arrays to detect constitutional abnormalities, and could help make Agilent more competitive against firms like Affymetrix and Illumina that currently sell SNP platforms for cytogenetic research.

According to attendees of an International Standard Cytogenomic Array Consortium workshop last week, standardizing the way in which array results are interpreted is the major task facing the space.

The International Standard Cytogenomic Array Consortium said chromosomal microarrays should replace G-banded karyotypes as the first-tier technology to test individuals with unexplained developmental delay and certain intellectual disabilities.

France is a "key market" for OGT, due in part to its "strong emphasis on health care," according to James Clough, vice president of clinical and genomic solutions at the UK-based company.

Spencer Howell, director of cytogenetics at OGT, said this week that the Oxford, UK-based firm is seeing "massive uptake" in the cytogenetics market, and that customers "prefer a standard design" over other designs available today.

There was evidence at the conference that SNP and CGH arrays have made considerable inroads into the cytogenetics market over the past few years, but a number of talks addressed issues that clinicians face as they look to bring arrays into their practice.

In PLOS this week: role for Notch signaling in congenital heart disease, sciatica risk variants, and more.

Researchers in China have used the CRISPR/Cas9 genome editing approach to alter the length of hair fibers in cashmere goats.

According to ScienceInsider, the Scripps Research Institute and the California Institute for Biomedical Research are merging.

National Cancer Institute researchers didn't report severe adverse events to Food and Drug Administration in a timely manner, the Wall Street Journal reports.