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hereditary disease

Last year, GenePeeks raised $16 million in a Series B funding round from 5AM Ventures, Columbus Nova Technology Partners, Alexandria Venture Investments, Alta Partners, and others.

Precision medicine platform developer 2bPrecise, a subsidiary of Allscripts, will develop and test genomics care protocols with Mayo Clinic.

At the European Society of Human Genetics annual meeting in Copenhagen this week, several groups presented studies involving automated facial analysis software. 

Paralogs may compensate for a mutated gene in tissues other than the disease-affected ones, researchers from Ben-Gurion University of the Negev in Israel found.

FDNA's Face2Gene suite analyzes phenotypic data, including facial features, from rare disease patients.

The company, which has offices in Italy and New York, outsources the analysis to partner laboratories and offers genetic counseling as an option.

The company has installed Illumina's HiSeq X sequencing platform and expects to sequence 20,000 genomes by the end of next year.

The company has also expanded its current Veracity NIPT to sex chromosomal aneuplodies and twin pregnancies, and plans to offer microdeletion testing next year.

The company launched an updated version of its Face2Gene software suite earlier this month at the American Society of Human Genetics annual meeting.

Clinicians and genetic counselors are coming up with triage strategies for cancer cases in which medically actionable germline mutations are suspected.

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The UK has given emergency authorization for Pfizer and BioNTech's SARS-CoV-2 vaccine, the Associated Press reports.

A US advisory committee says healthcare workers and nursing home residents should be prioritized to receive a SARS-CoV-2 vaccine, according to the Financial Times.

The Wall Street Journal reports North Korean hackers have targeted half a dozen companies developing SARS-CoV-2 vaccines.

In Cell this week: long-term SARS-CoV-2 shedding, examination of the effects of a coronavirus spike protein mutation, and more.