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genetic disorders

Last month, the Cyprus-based genetic diagnostics company launched a number of hereditary cancer and somatic tumor sequencing panels, its first tests for oncology.

With machine learning and clinical natural language processing, the team has come up with more automated methods to do provisional diagnoses on children with genetic disease.

Researchers plan to compare rapid whole-genome sequencing with standard diagnostic methods in 200 critically ill newborns.

The partners are planning to integrate the technology into Horizon's research tools and services and to develop it for applications in cell therapeutics.

The companies will work together to identify the genetic mutations that cause the rare genetic lysosomal storage disorder alpha mannosidosis.

Regenerative therapeutics company StemCyte will offer Fulgent's Beacon Expanded Carrier Screening and Newborn Genetic Analysis testing services.

The groups will conduct a study evaluating the benefits of targeted next-generation sequencing in the diagnosis and care of infants with genetic disorders.

The syndromes — HLRCC and SDH PGL/PCC — suppress DNA repair by homologous recombination, rendering tumors vulnerable to PARP inhibitors. 

Illumina is working on further reducing turnaround time of the analysis and on detecting structural variants and repeat expansions.

Centogene will help Aldeyra identify patients with Sjögren-Larsson Syndrome, a rare genetic disease for which Aldeyra is developing a treatment.

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A New Zealand minister says the country's genetic modification laws need to be re-examined to help combat climate change, the New Zealand Herald reports.

A new analysis finds some cancers receive more nonprofit dollars than others.

An Australian mother's conviction in the deaths of her children may be re-examined after finding that two of the children carried a cardiac arrhythmia-linked gene variant.

In Science this week: comparative analysis of sex differences in mammal gene expression, and more.