Structural variation in the chicken genome identified by paired-end next-generation DNA sequencing of reduced representation libraries [PDF]
Background Variation within individual genomes ranges from single nucleotide polymorphisms (SNPs) to kilobase, and even megabase, sized structural variants (SVs), such as deletions, insertions, inversions, and more complex rearrangements.
Kerstens Hindrik HD +17 more
core +2 more sources
Insulinomatosis is characterized by monohormonality of multiple macro-tumors and micro-tumors that arise synchronously and metachronously in all regions of the pancreas, and often recurring hypoglycemia. One of the main characteristics of insulinomatosis
Kirill Anoshkin +13 more
doaj +1 more source
DNA copy number, including telomeres and mitochondria, assayed using next-generation sequencing
Background DNA copy number variations occur within populations and aberrations can cause disease. We sought to develop an improved lab-automatable, cost-efficient, accurate platform to profile DNA copy number.
Jackson Stuart +10 more
doaj +1 more source
Extensive Copy-Number Variation of Young Genes across Stickleback Populations [PDF]
MM received funding from the Max Planck innovation funds for this project. PGDF was supported by a Marie Curie European Reintegration Grant (proposal nr 270891). CE was supported by German Science Foundation grants (DFG, EI 841/4-1 and EI 841/6-1).
Manfred Milinski (47828) +65 more
core +3 more sources
Copy number variations in urine cell-free DNA from bladder neoplasm patients
Bladder cancer is a common malignancy, and its diagnosis is based on invasive procedures such as cystoscopy. Genetic aberrations play an important role in the development of many diseases, including bladder cancer.
Cuello Garcia Haider +13 more
doaj +1 more source
Is there a relationship between fingerprint donation and DNA shedding? [PDF]
This research investigates the possible relationship between fingerprint donation and DNA shedding. Volunteers were asked to provide a series of fingerprint depletions on glass. The level of fingerprint detail developed and DNA profiling results obtained
Nic Daéid, Niamh; id_orcid +6 more
core +3 more sources
Trf4 targets ncRNAs from telomeric and rDNA spacer regions and functions in rDNA copy number control [PDF]
Trf4 is the poly(A) polymerase component of TRAMP4, which stimulates nuclear RNA degradation by the exosome. We report that in Saccharomyces cerevisiae strains lacking Trf4, cryptic transcripts are detected from regions of repressed chromatin at ...
Houseley, Jonathan +3 more
core +1 more source
Detection of
Background Mortality is high in patients with esophageal carcinoma as tumors are rarely detected before the disease has progressed to an advanced stage.
Iolascon Achille +12 more
doaj +1 more source
From mice to humans—divergent strategies for intestinal homeostasis and regeneration
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
RNA-mediated epigenetic regulation of DNA copy number [PDF]
Increasing evidence suggests that parentally supplied RNA plays crucial roles during eukaryotic development. This epigenetic contribution may regulate gene expression from the earliest stages.
Wenwen Fang +9 more
core +1 more source

