Copy number in the Multisectional Resume

Aug 6th, 2022
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How to copy number in the Multisectional Resume

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hello my name is erica anderson and today ill be discussing resources used for clinical copy number variant or cnv interpretation ill review new metrics and reporting recommendations developed by our cnv interpretation guidelines committee as well as details on how to use our publicly available dosage sensitivity map resources relating to cnv interpretation are available on the conference website and will be covered in more detail during this workshop id like to start by highlighting a couple of challenges to the cnv interpretation process the first being that most cnbs are unique or non-recurrent and thus have variable break points in gene content this figure shows some examples of unique cnvs involving many genes few genes and no genes during clinical encounter evaluating each of these cnvs will involve compiling evidence from different resources then using standardized processes to classify each appropriately followed by tailoring the clinical report for any cnvs that meet your l

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noun. : a numeral placed on a book to distinguish it from other copies of the same title.
Copy number variation (CNV) has recently been identified as a major cause of structural variation in the genome, involving both duplications and deletions of sequences that typically range in length from 1,000 base pairs to 5 megabases, the cytogenetic level of resolution.
Copy number variations can be generally categorized into two main groups: short repeats and long repeats. However, there are no clear boundaries between the two groups and the classification depends on the nature of the loci of interest.
Copy number variants (CNVs) were the subject of extensive research in the past years. They are common features of the human genome that play an important role in evolution, contribute to population diversity, development of certain diseases, and influence hostmicrobiome interactions.
One of the most well-known examples of a disease-causing CNV is Huntington disease, which is caused by a repeating sequence of three base pairs (known as a trinucleotide repeat) at the end of the coding region of the HTT gene.
The difference between CNAs and CNVs is that copy number alterations are changes in copy number that have arisen in somatic tissue and copy number variations originate from changes in copy number in germline cells.
Copy number variation (CNV) is a general term used to describe a molecular phenomenon in which sequences of the genome are repeated, and the number of repeats varies between individuals of the same species.
Copy number variation (abbreviated CNV) refers to a circumstance in which the number of copies of a specific segment of DNA varies among different individuals genomes. The individual variants may be short or include thousands of bases.
Approximately two-thirds of the entire human genome may be composed of repeats and 4.89.5% of the human genome can be classified as copy number variations. In mammals, copy number variations play an important role in generating necessary variation in the population as well as disease phenotype.
Changes in copy number might change the levels of expression of genes included in the regions of variable copy number, allowing transcription levels higher or lower than those that can be achieved by control of transcription of single copies per haploid genome.

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