Human Y chromosome copy number variation in the next generation sequencing era and beyond.

ABSTRACT: The human Y chromosome provides a fertile ground for structural rearrangements owing to its haploidy and high content of repeated sequences. The methodologies used for copy number variation (CNV) studies have developed over the years. Low-throughput techniques based on direct observation of rearrangements were developed early on, and are still used, often to complement array-based or sequencing approaches which have limited power in regions with high repeat content and specifically in the presence of long, identical repeats, such as those found in human sex chromosomes. Some specific rearrangements have been investigated for decades; because of their effects on fertility, or their outstanding evolutionary features, the interest in these has not diminished. However, following the flourishin

SUBMITTER: Massaia A 

PROVIDER: S-EPMC5418319 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature