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More precise diagnoses made possible with whole genome sequencing, finds study


More precise diagnoses made possible with whole genome sequencing, finds study
ANI |
Updated: Mar 17, 2021 08:18 IST
Solna [Sweden], March 17 (ANI): More than 1,200 people with rare diseases have received a diagnosis thanks to the integration of large-scale genomics into the Stockholm region s healthcare system. This is according to a study from Karolinska Institutet in Sweden that analysed the result of the first five years of collaboration on whole-genome sequencing between Karolinska University Hospital and SciLifeLab.
The work, published in Genome Medicine, constitutes a major leap forward in the emerging field of precision medicine.
We ve established a way of working where hospital and university collaborate on sequencing each patients entire genome in order to find genetic explanations for different diseases, says the paper s first author Henrik Stranneheim, a researcher at the Department of Molecular Medicine and ....

Anna Wedell , Karolinska Institutet , Henrik Stranneheim , Anna Lindstrand , Department Of Molecular Medicine , Genomic Medicine Center Karolinska , Karolinska University Hospital Department Of Clinical Genetics , Karolinska University Hospital , Karolinska University Laboratory , Royal Institute Of Technology , Genome Medicine , Molecular Medicine , Clinical Genomics , Genomic Medicine Center Karolinska Rare Diseases , Genome Sequencing , Precise Diagnoses , Genetic Material , Latest Science Related Study , துறை ஆஃப் மூலக்கூறு மருந்து , அரச நிறுவனம் ஆஃப் தொழில்நுட்பம் , மரபணு மருந்து , மூலக்கூறு மருந்து , மருத்துவ மரபியல் , மரபணு வரிசைப்படுத்துதல் , ஜெநெடிக் பொருள் , சமீபத்தியது அறிவியல் தொடர்புடையது படிப்பு ,