Results 91 to 100 of about 2,882,377 (304)
Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases
npj Genomic Medicine, 2017 Childhood-onset muscle disorders are genetically heterogeneous. Diagnostic workup has traditionally included muscle biopsy, protein-based studies of muscle specimens, and candidate gene sequencing.
Deborah Schofield +12 more
doaj +1 more source
Overcoming Drug Resistance by Paclitaxel Resistance in Triple‐Negative Breast Cancer
Advanced Science, EarlyView.In the murine triple‐negative breast cancer (TNBC) model, chemotherapy effectively increases tumor neoantigen burden (TNB). Here, the study constructs a liposomal nanovaccine using antigens derived from in vitro chemotherapy‐treated paclitaxel‐resistant TNBC 4T1 cells.
Bo Chen +10 more
wiley +1 more source
Whole-exome sequencing in familial keratoconus: the challenges of a genetically complex disorder
, 2019 Purpose: The underlying genetic causes of keratoconus are essentially unknown. Here, we conducted whole-exome sequencing in 2 Brazilian families with keratoconus.
Thayne Woycinck Kowalski (7574621) +3 more
core +1 more source
Gene Analysis for the Sudden Death of Hypertrophic Cardiomyopathy by Whole Exome Sequencing [PDF]
Fayixue Zazhi, 2017 Objective To analyze the related pathogenicity gene mutations in a sudden death of hypertrophic cardiomyopathy （HCM） on whole exome level. Methods Whole exome sequencing （WES） was been performed on a sudden death case sample with pathological features of
XU CHUAN-CHAO, BAI YUN-ZHI, XU XIN-SHU, ET AL.
doaj +1 more source
Advanced Science, EarlyView.An optimized Cas9‐enriched nanopore sequencing workflow, combined with STRiker, enables simultaneous analysis of disease‐associated STR loci from patient blood. The nCATS–STRiker workflow detects repeat expansions, de novo repeat motifs, interruption patterns, and methylation in a single assay, improving the genetic diagnosis of previously undiagnosed ...
Seungbok Lee +11 more
wiley +1 more source
Mutation discovery in mice by whole exome sequencing [PDF]
Genome Biology, 2011 Abstract We report the development and optimization of reagents for in-solution, hybridization-based capture of the mouse exome. By validating this approach in a multiple inbred strains and in novel mutant strains, we show that whole exome sequencing is a robust approach for discovery of putative mutations, irrespective of strain ...
Fairfield, Heather +33 more
openaire +3 more sources
, 2016 Variants in candidate CRC susceptibility genes identified by whole-exome sequencing and targeted re-sequencing.
Richarda M. de Voer (345512) +18 more
core +1 more source
TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non‐Syndromic Hearing Loss
Advanced Science, EarlyView.TECTB is a non‐collagenous protein of the tectorial membrane – an extracellular matrix of the cochlea. This study identifies dominant missense variants in TECTB linked to human hereditary deafness in two unrelated families. Genetically engineered mice homozygous for one of the variants are profoundly deaf, whereas heterozygous mice have normal hearing ...
Evan B. Hale +23 more
wiley +1 more source
Incidental Medical Information in Whole-Exome Sequencing [PDF]
Pediatrics, 2012 Genomic technologies, such as whole-exome sequencing, are a powerful tool in genetic research. Such testing yields a great deal of incidental medical information, or medical information not related to the primary research target. We describe the management of incidental medical information derived from whole-exome sequencing in the research context. We
Benjamin D, Solomon +11 more
openaire +2 more sources
Overview of the study cohorts analyzed by whole exome sequencing.
, 2018 Overview of the study cohorts analyzed by whole exome sequencing.
Gerard W. Dougherty (5687522) +29 more
core +1 more source