Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH


Whole exome sequencing has made increasingly accessible the identification of causative SNVs/InDels associated with rare Mendelian conditions. Incorporation of softwares allowing CNVs detection into the WES bioinformatics pipelines may increase the diagnostic yield. However, no standard protocols for this analysis are so far available and CNVs in non-coding regions are totally missed by WES, in spite of their possible role in the regulation of the flanking genes expression. So, in a number of cases the diagnostic workflow contemplates an initial investigation by genomic arrays followed, in the negative cases, by whole exome sequencing. The opposite workflow may also be applied, according to the familial segregation of the disease.
We show preliminary results for a diagnostic application of a single next generation sequencing panel permitting the concurrent detection of LOH and variations in sequences and copy number. This approach allowed us to highlight compound heterozygosity for a CNV and a sequence variant in a number of cases, the duplication of a non-coding region responsible for sex reversal, and a whole-chromosome isodisomy causing reduction to homozygosity for a WFS1 variant. Moreover, the panel enabled us to detect deletions, duplications, and amplifications with sensitivity comparable to that of the most widely used array-CGH platforms.

Za odpiranje dokumenta
kliknite tukaj …

Comments are closed.

Politika zasebnosti
Chemass

Naša spletna stran uporablja piškotke za namene zagotavljanja boljše funkcionalnosti in uporabniške izkušnje ter štetja uporabnikov na spletnem mestu. Uporabljamo piškotke Google Analytics, izdane s strani Google inc.. Informacije so shranjene v piškotkih vašega brskalnika in služijo namenu prepoznavanja vaše izbire ter anonimnemu štetju katere Chemassove spletne vsebine so se vam zdele zanimive in ste si jih ogledali.

Uporabo piškotkov lahko prilagodite v nastavitvah spodaj.

Obvezno potrebni piškotki

Priporočamo, da Obvezno potrebne piškotke vedno dovolite, da lahko shranimo vaše nastavitve glede uporabe piškotkov.

Če to možnost onemogočite boste ob vsakem naslednjem obisku Chemassovih strani morali izbiro o piškotkih ponovno nastaviti.

Google Analytics

Spletna stran uporablja Google Analytics za zbiranje anonimnih informacij o številu obiskovalcev in obiskanih straneh.

Če ta piškotek aktivirate nam omogočite učinkovitejše zagotavljanje boljše funkcionalnosti in uporabniške izkušnje na Chemassovi spletni strani.