Sentences with phrase «ranging numbers of copies»

Not exact matches

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.

Using this technology, we screened 31 patient samples across an array containing a total of 162 exons for five disease genes and detected copy - number changes, ranging from whole - gene deletions and duplications to single - exon deletions and duplications, in 100 % of the cases.

Use this set of files when interested in identifying CNVs (compared to the reference) in samples that exhibit widespread or long - range divergence from a copy number of two across all autosomal chromosomes.

GATK4 will also extend the range of use cases supported by GATK to include cancer, structural variation, copy number variation, and more.

Look, I am not unfamiliar with the pleasures that can be had from sitting down and watching a truly bad movie unspool and unravel before ones eyes — I was attending bad movie festivals when I was still a barefoot boy with cheek of tan, I used to carry a copy of «The Golden Turkey Awards» around like a Bible and I have willingly watched «Manos: The Hands of Fate» multiple times without the MST3K commentary — and I have watched it a number of times in situations ranging from at home on DVD to the full - out in - theater experience but I am at a loss to explain what the appeal, no matter how ironic in nature, could possibly be.

My sales numbers range from 14 copies (yes, only 14 units sold) on one book to another book with 1000s of copies sold, with an average payment of $ 2.70 - 3.00 per unit sold.

On the video front, each of the new Aventage receivers comes equipped with a varying number of HDMI ports capable of handling 4K Ultra HD resolution, HDCP 2.2 copy protection, and high dynamic range (HDR) pass - through, as well as the ability to handle BT2020 10 - and 12 - bit color spaces with 4:4:4 chroma subsampling.