Identification of a somatic mutation in the RHEB gene through high depth and ultra-high depth next generation sequencing in a patient with Hemimegalencephaly and drug resistant Epilepsy.
Sign Up to like & getrecommendations! Published in 2018 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2018.11.005
Abstract: Malformations of cortical development are a frequent cause of drug-resistant Epilepsy and developmental delay. Hemimegalencephaly is a Malformation of cortical development characterized by enlargement of all or a part of one cerebral hemisphere. Germline and… read more here.
Keywords: epilepsy; depth; somatic mutation; rheb ... See more keywords
Numerical design of high depth-to-width ratio friction stir welding
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Materials Processing Technology"
DOI: 10.1016/j.jmatprotec.2017.09.029
Abstract: Abstract Tools with a high depth-to-width ratio of 0.6 were designed and tested. The thread structure of pin could promote material flow but increase fracture risk. The pins with milling facets were more beneficial to… read more here.
Keywords: width ratio; depth width; friction stir; high depth ... See more keywords
High-depth, high-accuracy microsatellite genotyping enables precision lung cancer risk classification
Sign Up to like & getrecommendations! Published in 2017 at "Oncogene"
DOI: 10.1038/onc.2017.256
Abstract: There remains a large discrepancy between the known genetic contributions to cancer and that which can be explained by genomic variants, both inherited and somatic. Recently, understudied repetitive DNA regions called microsatellites have been identified… read more here.
Keywords: cancer; high depth; risk; lung cancer ... See more keywords
High-depth African genomes inform human migration and health
Sign Up to like & getrecommendations! Published in 2020 at "Nature"
DOI: 10.1038/s41586-020-2859-7
Abstract: The African continent is regarded as the cradle of modern humans and African genomes contain more genetic variation than those from any other continent, yet only a fraction of the genetic diversity among African individuals… read more here.
Keywords: genomes inform; african genomes; migration; depth african ... See more keywords
High depth targeted next-generation sequencing in vascular malformations.
Sign Up to like & getrecommendations! Published in 2025 at "Human molecular genetics"
DOI: 10.1093/hmg/ddaf169
Abstract: A vascular anomaly could be a vascular tumor or a vascular malformation. Vascular malformation is subclassified into fast-flow, including arteriovenous malformation and portwine stain, and slow-flow group comprising venous malformation, lymphatic malformation, and venolymphatic malformation.… read more here.
Keywords: high depth; generation sequencing; next generation; vascular malformation ... See more keywords
High-Depth Transcriptome Reveals Differences in Natural Haploid Ginkgo biloba L. Due to the Effect of Reduced Gene Dosage
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23168958
Abstract: As a representative of gymnosperms, the discovery of natural haploids of Ginkgo biloba L. has opened a new door for its research. Haploid germplasm has always been a research material of interest to researchers because… read more here.
Keywords: haploid ginkgo; ginkgo; high depth; transcriptome ... See more keywords