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ISCA

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.

The final text of the bill to reauthorize the America COMPETES Act might smooth over the differences between NSF and the House science committee, ScienceInsider says.

Four Republican lawmakers urge President-elect Donald Trump to keep Francis Collins as NIH director, Stat News reports.

In Genome Research this week: Platinum variant catalog, algorithmic strategy for upgrading fragmented assemblies, and more.

Sequencing of a 10,000-year-old mummy leads to its repatriation to the Fallon Paiute-Shoshone Tribe, Nature News reports.