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Novel workflow closes the gap in detecting 5q-spinal muscular atrophy

Novel workflow closes the gap in detecting 5q-spinal muscular atrophy
medicalxpress.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from medicalxpress.com Daily Mail and Mail on Sunday newspapers.

Stephanie Kleinle , Teresa Neuhann , Angela Abicht , Genetics Center , Department Of Neurology , Integrative Genomics Viewer , Neuromuscular Diseases , Medical Genetics Center , Human Phenotype Ontology , Spinal Muscular Atrophy , Short Read Next Generation Sequencing , Unexpected Results , Diagnostic Patient Cohort ,

Whole-genome analysis of human papillomavirus 67 isolated from Japanese women with cervical lesions | Virology Journal

Human papillomavirus (HPV) type 67 is phylogenetically classified into Alphapapillomavirus species 9 (alpha-9) together with other carcinogenic types (HPV16, 31, 33, 35, 52 and 58), but is the only alpha-9 type defined as possibly carcinogenic. This study aimed to determine whole-genome sequences of HPV67 isolated from Japanese women with cervical cancer or cervical intraepithelial neoplasia (CIN) to better understand the genetic basis of the oncogenic potential of HPV67. Total cellular DNA isolated from cervical exfoliated cells that were single positive for HPV67 (invasive cervical cancer, n = 2; CIN3, n = 6; CIN 2, n = 1; CIN1, n = 2; the normal cervix, n = 1) was subjected to PCR to amplify HPV67 DNA, followed by next generation sequencing to determine the complete viral genome sequences. Variant lineages/sublineages were assigned through viral whole-genome phylogenetic analysis. The transcriptional activity of th ....

San Diego , United States , Spriselect Beckman Coulter , Department Of Gynecology At Keio University Hospital , Showa University Hospital , Center Tokyo , Keio University Hospital , Total Nucleic Acid Isolation , Beckman Coulter , Integrative Genomics Viewer ,

De novo mutations identified by whole-genome sequencing implicate chromatin modifications in obsessive-compulsive disorder

De novo mutations identified by whole-genome sequencing implicate chromatin modifications in obsessive-compulsive disorder
science.org - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from science.org Daily Mail and Mail on Sunday newspapers.

Simons Simplex Collection , Integrative Genomics Viewer , Gene Ontology , Supplementary Materials ,

A selective WDR5 degrader inhibits acute myeloid leukemia in patient-derived mouse models

A selective WDR5 degrader inhibits acute myeloid leukemia in patient-derived mouse models
science.org - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from science.org Daily Mail and Mail on Sunday newspapers.

Integrative Genomics Viewer , Cancer Cell Line Encyclopedia ,