Results 51 to 60 of about 155,803 (258)
Profiling of the metabolic transcriptome via single molecule molecular inversion probes [PDF]
Scientific Reports, 2017 AbstractCancer-specific metabolic alterations are of high interest as therapeutic targets. These alterations vary between tumor types, and to employ metabolic targeting to its fullest potential there is a need for robust methods that identify candidate targetable metabolic pathways in individual cancers.
Bitter, T.J.J. de +11 more
openaire +5 more sources
A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies
Frontiers in Pediatrics, 2020 Background: The VATER/VACTERL association (VACTERL) is defined as the non-random occurrence of the following congenital anomalies: Vertebral, Anal, Cardiac, Tracheal-Esophageal, Renal, and Limb anomalies.
Romy van de Putte +37 more
doaj +1 more source
Novel GANAB variants associated with polycystic liver disease
Orphanet Journal of Rare Diseases, 2020 Background Polycystic liver disease (PLD) is an inherited disorder characterized by numerous cysts in the liver. Autosomal dominant polycystic kidney and liver disease (ADPKD and ADPLD, respectively) have been linked to pathogenic GANAB variants.
Liyanne F. M. van de Laarschot +8 more
doaj +1 more source
Parental origin of deletions and duplications – about the necessity to check for cryptic inversions
Molecular Cytogenetics, 2018 Background Copy number variants (CNVs) are the genetic bases for microdeletion/ microduplication syndromes (MMSs). Couples with an affected child and desire to have further children are routinely tested for a potential parental origin of a specific CNV ...
Thomas Liehr +15 more
doaj +1 more source
Human Mutation, 2019 Stargardt disease (STGD1) is caused by biallelic mutations in ABCA4, but many patients are genetically unsolved due to insensitive mutation‐scanning methods.
Mubeen Khan +19 more
semanticscholar +1 more source
Computational Simulation of Adapter Length-Dependent LASSO Probe Capture Efficiency
Biomolecules, 2019 Multiplexed cloning of long DNA sequences is a valuable technique in many biotechnology applications, such as long-read genome sequencing and the creation of open reading frame (ORF) libraries.
Jingqian Liu +8 more
doaj +1 more source
Molecular probe technology detects bacteria without culture
BMC Microbiology, 2012 Background Our ultimate goal is to detect the entire human microbiome, in health and in disease, in a single reaction tube, and employing only commercially available reagents.
Hyman Richard W +9 more
doaj +1 more source
Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation [PDF]
Genome Research, 2013 The detection and quantification of genetic heterogeneity in populations of cells is fundamentally important to diverse fields, ranging from microbial evolution to human cancer genetics. However, despite the cost and throughput advances associated with massively parallel sequencing, it remains challenging to reliably detect mutations that are present ...
Joseph B. Hiatt +4 more
openalex +4 more sources
Haematologica, 2023 Donor clonal hematopoiesis may be transferred to the recipient through allogeneic hematopoietic stem cell transplantation (HSCT), but the potential for adverse long-term impact on transplant outcomes remains unknown.
Kyoung Ha Kim +21 more
doaj +1 more source
Genome Medicine, 2016 Unlocking clinically translatable genomic information, including copy number alterations (CNA), from formalin-fixed paraffin-embedded (FFPE) tissue is challenging due to low yields and degraded DNA. We describe a robust, cost-effective low-coverage whole
Tanjina Kader +11 more
doaj +1 more source