Results 51 to 60 of about 25,457 (267)
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
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
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
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
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
Characterizing the Pharmacogenome using Molecular Inversion Probes for Targeted Next-Generation Sequencing [PDF]
Pharmacogenomics, 2019 Aim: This study assesses the technical performance and cost of a targeted next-generation sequencing (NGS) multigene pharmacogenetic (PGx) test. Materials & methods: A genetic test was developed for 21 PGx genes using molecular inversion probes to generate library fragments for NGS.
Olivia M. Dong +3 more
openaire +3 more sources
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
HemoMIPs-Automated analysis and result reporting pipeline for targeted sequencing data.
PLoS Computational Biology, 2020 Targeted sequencing of genomic regions is a cost- and time-efficient approach for screening patient cohorts. We present a fast and efficient workflow to analyze highly imbalanced, targeted next-generation sequencing data generated using molecular ...
Philip Kleinert +2 more
doaj +1 more source
Molecular inversion probes reveal patterns of 9p21 deletion and copy number aberrations in childhood leukemia [PDF]
Cancer Genetics and Cytogenetics, 2009 Childhood leukemia, which accounts for >30% of newly diagnosed childhood malignancies, is one of the leading causes of death for children with cancer. Genome-wide studies using microarray chips to identify copy number changes in human cancer are becoming more common.
Joshua D. Schiffman +10 more
openalex +4 more sources