Category: Νέα

Researchers confirm whole-genome sequencing can successfully identify cancer-related mutations

UT Southwestern Medical Center cancer researchers have demonstrated that whole-genome sequencing can be used to identify patients’ risk for hereditary cancer, which can potentially lead to improvements in cancer prevention, diagnosis, and care. This is the first study that has used whole-genome sequencing to evaluate a series of 258 cancer patients’ genomes to improve the […]

Δεκέμβριος 27, 2015 Νέα

Newborns And Sequencing

A new study from researchers at Brigham and Women’s Hospital and Boston Children’s Hospital, found that most prospective new born babyparents they surveyed would like to have their newborns sequenced for medical conditions and disorders. “Several other studies have measured parents’ interest in newborn genomic screening, but none focused on new parents in the first […]

Δεκέμβριος 22, 2015 Νέα

Feature: Peering into my genome

Rarely could I be described in a headline in The New York Times, which explains why I lingered over one earlier this fall. “Study of Jewish Women Shows Link to Cancer Without Family History,” announced the 5 September story. Uneasily, I read on: “Women of Ashkenazi Jewish descent who tested positive for cancer-causing genetic mutations […]

Δεκέμβριος 17, 2015 Νέα


Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project. Genet. Med. 13 (2011) 230-254 Mutational analysis for biotinidase deficiency of a Greek patients’ cohort ascertained through expanded newborn screening. J. Hum. Genet. 56 (2011) 861-865 Enhanced interpretation of newborn screening results without analyte cutoff […]

Δεκέμβριος 17, 2015 Νέα