SAN FRANCISCO (GenomeWeb) – Repeat expansions cause more than 30 inherited disorders, yet diagnosing them correctly can be challenging. Overlapping phenotypes make diagnosis by the gold standard methods — Southern blot or PCR — time consuming, while whole-genome and exome sequencing with short reads often miss the expansions.

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The data generated by 100,000 Genomes Project is being housed on military servers due to attacks by hackers, Naked Security reports.

A new poll finds most US adults are not familiar with personalized medicine, according to HealthDay.

Vox reports that the United Nations' Convention on Biological Diversity decided against a gene drive moratorium.

In Science this week: sequencing of neuroblastomas uncovers alterations linked to prognosis, and more.

Dec
11
Sponsored by
PerkinElmer

This webinar describes a study that used two independent next-generation sequencing (NGS) platforms to gain insight into the impact of different types of aneuploidies during preimplantation genetic testing.

Dec
12
Sponsored by
Illumina

This webinar will discuss the use of shotgun metagenomics to identify children at risk of hospital-acquired infection.

Jan
31
Sponsored by
Roche

This webinar highlights the use of single-cell genomics to identify distinct cell types and states associated with enhanced immunity.