Sentences with phrase «copy number aberrations»

Additionally, copy number aberrations inferred from the Ion Torrent sequencing were compared to single nucleotide polymorphism arrays and found to be 59 % concordant on average.

As with most cancers, triple - negative breast cancer (TNBC) cells have abnormal amounts of chromosomes or DNA copy number aberrations (CNAs) in their genomes.

Not exact matches

Recently geneticists have taken a closer look at a genetic aberration previously considered rare: copy number variation (CNV).

As an example, skeletal malformations and dysplasias, often detected through routine prenatal ultrasound examination, constitute a phenotypic finding in more than 300 syndromic and non-syndromic disorders and their genetic etiology may be due to a wide variety of genetic aberrations, ranging from copy number variations to single gene mutations.

From cytogenetic research to genome - wide copy number association from micro-arrays, SVS delivers a powerful toolset for correlating common and rare chromosomal aberrations with disease.