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Whole genome sequencing (WGS) has increased in popularity and decreased in cost over the past decade, rendering this approach as a viable and sensitive method for variant detection. In addition to its utility for single nucleotide variant detection, WGS data has the potential to detect Copy Number Variants (CNV) to fine resolution. Many CNV detection software packages have been developed exploiting four main types of data: read pair, split read, read depth, and assembly based methods. The aim of this study was to evaluate the efficiency of each of these main approaches in detecting germline deletions.
This article was published in the following journal.
Name: Journal of biomedical informatics
The evolution of next-generation sequencing technologies has facilitated the detection of causal genetic variants in diseases previously undiagnosed at a molecular level. However, in genome sequencing...
CNValidator assesses the quality of somatic copy number calls based on coherency of haplotypes across multiple samples from the same individual. It is applicable to any copy number calling algorithm w...
Recently, comprehensive genetic approaches for steroid-resistant nephrotic syndrome (SRNS) using next-generation sequencing (NGS) have been established, but causative gene mutations could not be detec...
Breast implant-associated anaplastic large cell lymphoma (BIA-ALCL) is a rare form of T-cell lymphoma that occurs after implantation of breast prostheses. We performed comprehensive next generation se...
The usage of next-generation sequencing (NGS) to detect copy number variation (CNV) is widely accepted in cancer research. Based on an AluScanCNV software developed by us previously, an AluScanCNV2 so...
In this, here we want to present a new method for analysis variation in gene copy number for patients and carriers of SMA. This is a relative quantitation method and, therefore, relies on ...
This protocol (in patients aged 65 and over suffering from previously untreated multiple myeloma), represents the first worldwide, pharmacogenomic study on this scale in terms of the numbe...
The current research focus for cancer diagonosis is classical genetics, named "driving genes". However, not all cancer patients have typical genetic alterations, especially at early stage....
A systematic review assessing the role, appropriateness and benefits of the active case detection strategy, both proactive and reactive, in low malaria transmission settings. A common indi...
Preterm labor is the first cause of hospitalization during the pregnancy, and at the origin of more than 60 000 births before 37 weeks of amenorrhea every year in France. It is however dif...
Stretches of genomic DNA that exist in different multiples between individuals. Many copy number variations have been associated with susceptibility or resistance to disease.
Educational programs structured in such a manner that the participating professionals, physicians, or students develop an increased awareness of their performance, usually on the basis of self-evaluation questionnaires.
Hand-held tools or implements especially used by dental professionals for the performance of clinical tasks.
Hand-held tools or implements used by health professionals for the performance of surgical tasks.
Compositions written by hand, as one written before the invention or adoption of printing. A manuscript may also refer to a handwritten copy of an ancient author. A manuscript may be handwritten or typewritten as distinguished from a printed copy, especially the copy of a writer's work from which printed copies are made. (Webster, 3d ed)
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...
DNA sequencing is the process of determining the precise order of nucleotides within a DNA molecule. During DNA sequencing, the bases of a small fragment of DNA are sequentially identified from signals emitted as each fragment is re-synthesized from a ...