Sentences with phrase «nucleotide variation»

SMN1 and SMN2 are nearly identical, he said, and the only consistent difference between them is a single nucleotide variation at the start of exon 7.

It consists of creating an original progressive system that will enable the annotation of nucleotide variations and the prediction of their pathogenicity based on the most robust algorithms and taking into account multiple levels of analysis.

«White males with a single nucleotide variation in KITLG, called the G allele, have the highest odds of having testicular cancer.

This study of human genetic variation and its relationship to health and disease involves a large number of study participants and will capture not only common single nucleotide variations but also rare copy number and structural variants that are increasingly thought to play an important role in complex disease.

While MDA has become the preferred amplification method for projects seeking single - nucleotide variations, labs looking for gene copy number variations often prefer a method called «multiple annealing and looping - based amplification cycles» (MALBAC).

Microarray studies and, more recently, exome sequencing have demonstrated the importance of de novo copy number variations (CNVs) and single - nucleotide variations (SNVs) in ID, but the majority of cases remains undiagnosed.

The marginAlign package can be used to align reads to a reference genome and call single nucleotide variations (SNVs).