chromosomal abnormalities | GenomeWeb

chromosomal abnormalities

A new study shows that combining size-based and count-based analysis helps determine whether a copy number aberration originates in the mother, fetus, or both.

The researchers will look for disease-causing variants in individuals with congenital heart disease who also have a chromosomal deletion syndrome.

Several academic and commercial groups are developing clinical cell-based noninvasive prenatal tests, which could eventually compete with current cell-free NIPTs.

The company's NGS-based PGS test will initially join, and eventually replace, its current array-based CombiPGS option, which it launched in 2014.

The firm found that for sub-chromosomal copy number variants, the test had a sensitivity of 97.7 percent and a specificity of 99.9 percent.

Low-coverage, whole-genome sequencing had a diagnostic yield of up to 53 percent in prenatal and postnatal samples referred for chromosomal analyses.

The recommendation calls for NIPT to be initially offered to women deemed at high risk for trisomy 21, 13, or 18 after the initial screening test.

In addition to performing Panorama, MedGenome will provide clinical genomic analysis using Natera's Constellation cloud-based software platform.

A University College London-led team has found that microdeletions and microduplications cannot be reliably detected by non-invasive prenatal testing.

Researchers from UCSD and the Guangdong Women and Children Hospital in China have published the first large clinical study of NIPT for sub-chromosomal alterations. 

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An opinion piece in the New York Times urges lawmakers to keep genetic protections in place.

Research funding in Canada is to remain mostly the same, ScienceInsider reports.

In Science this week: random DNA replication errors play role in cancer, and more.

The Bill and Melinda Gates Foundation embarks on an open-access publishing path.