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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.

Hong Kong-based Rainbow Genomics will provide exome sequencing while UCLA will interpret the data and deliver a clinical report.

The team showed that sequencing can diagnose ill babies faster, leading to better outcomes and saving money by reducing unnecessary treatments and procedures.

Natera and Qiagen have signed a 10-year agreement to develop cell-free DNA assays for use on Qiagen's GeneReader next-generation sequencing system.

Three national organizations focused on prenatal, perinatal, and maternal-fetal care issued a consensus position statement related to genome-wide sequencing for fetal diagnosis.

The test is offered to couples who have had an affected pregnancy, with the goal of providing a diagnosis to enable early prenatal or preimplantation genetic testing. 

Denmark-based Arcedi would like to commercialize its technology through a major diagnostic company.

MCRI is planning to integrate its POSSUMweb database into FDNA's Face2Gene software, in order to enhance its library of genetic syndrome data and images.

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Researchers are sampling the wild relatives of modern crops to try to preserve genetic diversity, NPR reports.

MIT's Search for Extraterrestrial Genomes is developing sequencing tools to use to try to detect whether there is any life on Mars, Quartz reports.

Undark reports on a bill introduced this year to the US House of Representatives to strengthen scientific integrity.

In Genome Research this week: post-zygotic mutations in diabetes development, single-cell RNA sequencing study of aging, and more.