Results 101 to 110 of about 1,217,732 (304)
Genome Medicine, 2020 Background Exome sequencing (ES) is a first-tier diagnostic test for many suspected Mendelian disorders. While it is routine to detect small sequence variants, it is not a standard practice in clinical settings to detect germline copy-number variants ...
Ramakrishnan Rajagopalan +3 more
doaj +1 more source
Diversity in coding tandem repeats in related spp. [PDF]
, 2003 This is an Open Access article: verbatim copying and redistribution of this article are permitted in all media for any purpose, provided this notice is preserved along with the article's original URL - © 2003 Jordan et al; licensee BioMed Central Ltd ...
Jordan, P, Saunders, NJ, Snyder, LAS
core +4 more sources
New Copy Number Variations in Schizophrenia
PLoS ONE, 2010 Genome-wide screenings for copy number variations (CNVs) in patients with schizophrenia have demonstrated the presence of several CNVs that increase the risk of developing the disease and a growing number of large rare CNVs; the contribution of these rare CNVs to schizophrenia remains unknown.
MAGRI, Chiara +8 more
openaire +5 more sources
Molecular Oncology, EarlyView.This study shows that copy number variations (CNVs) can be reliably detected in formalin‐fixed paraffin‐embedded (FFPE) solid cancer samples using ultra‐low‐pass whole‐genome sequencing, provided that key (pre)‐analytical parameters are optimized.
Hanne Goris +10 more
wiley +1 more source
Isocitrate dehydrogenase 1 mutations (IDH1) and p16/CDKN2A copy number change in conventional chondrosarcomas. [PDF]
, 2015 To determine whether IDH1 mutations are present in primary and relapsed (local and distal) conventional central chondrosarcomas; and secondly, to assess if loss of p16/CDKN2A is associated with tumour grade progression, 102 tumour samples from 37 ...
Amary, MF +7 more
core +1 more source
Molecular Oncology, EarlyView.Single circulating tumor cells (sCTCs) from high‐grade serous ovarian cancer patients were enriched, imaged, and genomically profiled using WGA and NGS at different time points during treatment. sCTCs revealed enrichment of alterations in Chromosomes 2, 7, and 12 as well as persistent or emerging oncogenic CNAs, supporting sCTC identity.
Carolin Salmon +9 more
wiley +1 more source
Comprehensively benchmarking applications for detecting copy number variation.
PLoS Computational Biology, 2019 MOTIVATION:Recently, copy number variation (CNV) has gained considerable interest as a type of genomic variation that plays an important role in complex phenotypes and disease susceptibility.
Le Zhang +3 more
doaj +1 more source
Increased gene copy number of DEFA1/DEFA3 worsens sepsis by inducing endothelial pyroptosis. [PDF]
, 2019 Sepsis claims an estimated 30 million episodes and 6 million deaths per year, and treatment options are rather limited. Human neutrophil peptides 1-3 (HNP1-3) are the most abundant neutrophil granule proteins but their neutrophil content varies because ...
Chen, QiXing +12 more
core +1 more source
A versatile statistical analysis algorithm to detect genome copy number variation [PDF]
, 2004 We have developed a versatile statistical analysis algorithm for the detection of genomic aberrations in human cancer cell lines. The algorithm analyzes genomic data obtained from a variety of array technologies, such as oligonucleotide array, bacterial ...
Daruwala, R. S. +5 more
core +1 more source
Molecular Oncology, EarlyView.Etoposide induces DNA damage, activating p53‐dependent apoptosis via caspase‐3/7, which cleaves PARP1. Dammarenediol II enhances this apoptotic pathway by suppressing O‐GlcNAc transferase activity, further decreasing O‐GlcNAcylation. The reduction in O‐GlcNAc levels boosts p53‐driven apoptosis and influences the Akt/GSK3β/mTOR signaling pathway ...
Jaehoon Lee +8 more
wiley +1 more source