Results 71 to 80 of about 709,139 (287)
, 2018 Shell script used for variant calling with samtools and ...
Gompert, Zach +5 more
core +1 more source
Diversity and complexity in neural organoids
FEBS Letters, EarlyView.Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley +1 more source
, 2015 Diagram of variant calling pipeline. Blue indicates storage and orange indicates computing.
Suyash S. Shringarpure (760934) +3 more
core +1 more source
FEBS Letters, EarlyView.We present robust protocols for the preparation of supported lipid bilayers (SLBs) incorporating either Salmonella smooth LPS or outer membrane vesicles (OMVs). We use a combination of quartz crystal microbalance with dissipation (QCM‐D) and fluorescence microscopy to both characterize the SLBs of various compositions and to probe their interactions ...
Hudson P. Pace +6 more
wiley +1 more source
Somatic variant calling benchmarking
, 2019 The increased number of sequenced cancer genomes since the completion of the human genome project, and the importance of correctly identifying somatic mutations, which can influence treatment or prognosis, is driving forward the development of novel somatic variant calling tools (somatic callers).
Mijalkovic, Sanja +3 more
openaire +1 more source
FEBS Letters, EarlyView.Proteostasis and the gut microbiota play a key role in shaping host physiology. Microbiota‐derived metabolites, vitamins, and RNA modulate host proteostasis. Findings from model systems, including C. elegans, indicate microbes can either stabilize or disrupt host proteostasis.
Abhishek Anil Dubey, Maria Ermolaeva
wiley +1 more source
Seeking an optimal variant calling pipeline for medical genetics [PDF]
, 2023 Accurate and comprehensive variant discovery is extremely important for rare disease diagnostics using next-generation sequencing (NGS) methods. Over the recent years, a plethora of methods have been developed for short variant calling from NGS data ...
Predeus V., Alexander +2 more
core
From mice to humans—divergent strategies for intestinal homeostasis and regeneration
FEBS Letters, EarlyView.Recent advances such as organoid genome editing, xenotransplantation, imaging, and whole‐genome sequencing have enabled direct studies of human intestinal stem cells (ISCs). These studies reveal species‐specific features, including slower ISC proliferation, distinct injury responses, slower somatic mutation accumulation in humans, and an inverse ...
Keiko Ishikawa +2 more
wiley +1 more source
BMC Medical Genomics, 2020 Background Next-Generation Sequencing (NGS) enables large-scale and cost-effective sequencing of genetic samples in order to detect genetic variants. After successful use in research-oriented projects, NGS is now entering clinical practice. Consequently,
Christian Wünsch +3 more
doaj +1 more source
False negatives in GBA1 sequencing due to polymerase dependent allelic imbalance
Scientific Reports, 2021 A variant in the GBA1 gene is one of the most common genetic risk factors to develop Parkinson’s disease (PD). Here the serendipitous finding is reported of a polymerase dependent allelic imbalance when using next generation sequencing, potentially ...
Jonas M. den Heijer +6 more
doaj +1 more source