Next-generation sequencing impact on cancer care: applications, challenges, and future directions
M Zalis, GG Viana Veloso, PN Aguiar Jr… - Frontiers in …, 2024 - frontiersin.org
Fundamentally precision oncology illustrates the path in which molecular profiling of tumors
can illuminate their biological behavior, diversity, and likely outcomes by identifying distinct …
can illuminate their biological behavior, diversity, and likely outcomes by identifying distinct …
Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa
C Vaché, V Faugère, D Baux, L Mansard… - European Journal of …, 2024 - nature.com
X-linked retinitis pigmentosa (XLRP) is characterized by progressive vision loss leading to
legal blindness in males and a broad severity spectrum in carrier females. Pathogenic …
legal blindness in males and a broad severity spectrum in carrier females. Pathogenic …
PHYH c. 678+ 5G> T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum Disease
MD Varela, E Schiff, S Malka, G Wright… - … & Visual Science, 2024 - iovs.arvojournals.org
Purpose: To investigate the molecular effect of the variant PHYH: c. 678+ 5G> T. This variant
has conflicting interpretations in the ClinVar database and a maximum allele frequency of …
has conflicting interpretations in the ClinVar database and a maximum allele frequency of …
Computational optimisation strategies for targeted DNA sequencing using nanopores
L Weilguny - 2023 - repository.cam.ac.uk
Long-read DNA sequencing is causing a generational shift in genome sequencing
productivity and is revolutionising many aspects of biological discovery. One of the …
productivity and is revolutionising many aspects of biological discovery. One of the …