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NEW YORK (GenomeWeb) – Adding whole-exome sequencing to the suite of prenatal diagnostics could boost the number of cases for which a genetic diagnosis is found, according to two new studies.

Ultrasounds uncover fetal anomalies in about 3 percent of pregnancies and follow-up testing by karyotyping and chromosomal microarray analysis finds that a third of these cases have an abnormal karyotype and a further 6 percent a disease-associated copy number variation.

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Researchers uncovered the HIV virus within a tissue sample collected in 1966, the Atlantic reports.

Nature News reports there are a handful of clinical trials underway to evaluate vaginal microbiome seeding of newborns born via caesarian section.

The Washington Post writes that humans may have contributed to the extinction of cave bears some 20,000 years ago.

In PLOS this week: gene variant may protect against trypanosomiasis, GLIS3 role in type 2 diabetes, and more.

Aug
22
Sponsored by
BC Platforms

This webinar will discuss how the Estonian Biobank, a cohort of more than 165,000 participants, is addressing industry challenges with data management and collaboration in the transition to precision medicine.

Aug
29
Sponsored by
PerkinElmer

This webinar will outline how RUCDR Infinite Biologics, the world's largest university-based biorepository, has implemented workflows and processes to support precision medicine applications.

Sep
18
Sponsored by
Bionano Genomics

This webinar will outline how a team at Radboud University Medical Center is assessing ultra-long read optical mapping on the Bionano Saphyr system to replace classical cytogenetics approaches in routine testing and for the discovery of novel structural variants with potential scientific, prognostic, or therapeutic value that are missed by standard approaches.

Oct
23
Sponsored by
Swift Biosciences

This webinar will illustrate how single-cell methylation sequencing can be applied to gain significant insight into epigenetic heterogeneity in disease states, advancing cancer research discoveries.