News tagged with human genetics

A new syndrome caused by mutations in AHDC1

A team of researchers led by Baylor College of Medicine have identified the gene underlying a newly recognized genetic syndrome that has symptoms of sleep apnea, delayed speech and hyptonia, or generalized upper body weakness.

May 01, 2014
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US OKs first-ever DNA alternative to Pap smear (Update 2)

U.S. government health regulators have cleared a genetic test from Roche as a first-choice screening option for cervical cancer. It was a role previously reserved for the Pap smear, the decades-old mainstay of women's health.

Apr 24, 2014
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Classifying sequence variants in human disease

Sequencing an entire human genome is faster and cheaper than ever before, leading to an explosion of studies comparing the genomes of people with and without a given disease. Often clinicians and researchers studying genetic ...

Apr 23, 2014
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Refining the language for chromosomes

When talking about genetic abnormalities at the DNA level that occur when chromosomes swap, delete or add parts, there is an evolving communication gap both in the science and medical worlds, leading to inconsistencies in ...

Apr 17, 2014
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