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Scientists discover 15 additional genetic mutations linked to KCNK9 imprinting syndrome

A collaborative team of scientists led by Mayo Clinic's Center for Individualized Medicine has discovered 15 additional genetic mutations in the KCNK9 gene that cause a neurodevelopmental syndrome. ....

Medical College Of Wisconsin , United States , Johna Mellowes , Emily Henderson , College Of Wisconsin , University Of Kent , German Research Foundation , Precision Medicine Center , Genomic Sciences , University Of Greenwich , Mayo Clinic Center , Discovery Fund , Mayo Clinic , Individualized Medicine , Margot Cousin , Genome Medicine , Medical College , Endowed Innovation , Healthier Wisconsin ,

Whole genome sequencing of 1,700-year-old individuals shows genetic heterogeneity in ancient Koreans from Gaya

An international team led by The University of Vienna and the Ulsan National Institute of Science and Technology in collaboration with the National Museum of Korea has successfully sequenced and studied the whole genome of eight 1,700-year-old individuals dated to the Three Kingdoms period of Korea (approx. 57 BC-668 AD). ....

South Korea , Yuha Ri , Kyongsang Namdo , Kidong Bae , Asta Blazyte , Jong Bhak , Ron Pinhasi , Pere Gelabert , Emily Henderson , National Museum Of Korea , Ulsan National Institute Of Science , University Of Vienna , Ulsan National Institute , National Museum , Three Kingdoms , Current Biology , Southeast Asia , Three Kingdoms Korea , Anthropologist Pere , Kofun Japanese ,

Genetic screening algorithm can estimate a person's risk of developing chronic kidney disease

A new algorithm developed by researchers at Columbia University can analyze thousands of variants across the genome and estimate a person's risk of developing chronic kidney disease-;and it works in people of African, Asian, European, and LatinX descent. ....

Krzysztof Kiryluk , Emily Henderson , Columbia University Vagelos College Of Physicians , Columbia University , Columbia University Vagelos College , Nature Medicine , Kidney Disease , Blood Pressure , Chronic Kidney Disease , High Blood Pressure , Kidney Failure , Public Health ,

New study provides 'big picture' of the genetic landscape of Europe

A new study by RCSI University of Medicine and Health Sciences examining population genetics across Europe has analyzed the diverse ancestries of people living in the UK. This knowledge has the potential to inform future health research on genetic factors leading to disease. ....

United Kingdom , Gianpiero Cavalleri , Edmund Gilbert , Emily Henderson , Proceedings Of The National Academy Sciences , University Of Medicine , School Of Pharmacy , Biomolecular Sciences , Health Sciences , Science Foundation Ireland , Futureneuro Research Centre , Neuro Research Centre , National Academy , United Kingdom Biobank , Human Genetics , Deputy Director , Doctoral Fellowship , Research Training , Genomics Data , K Biobank ,

Accurate detection of specific genomic disorders made possible by nanopore sequencing

Using nanopore sequencing, a rapid third-generation cytogenetic analysis tool, investigators are now able to accurately detect specific genomic disorders in a fraction of the time it takes to conduct traditional and molecular cytogenetic testing. ....

Alessandra Mingrino , Barbara Gega , Tommaso Pippucci , Pamela Magini , Emily Henderson , National Research Council , Department Of Experimental , Department Of Information Engineering , University Of Florence , Institute For Biomedical Technologies , Molecular Diagnostics , Alberto Magi , Information Engineering , Biomedical Technologies , Study Lead Investigator , Clinical Medicine , Molecular Diagnostics ,