Investigating mobile element variations by statistical genetics
The integration of structural variations (SVs) in statistical genetics provides an opportunity to understand the genetic factors influencing comple…
Tag: Structural variation
Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report
Charcot-Marie-Tooth disease type 2Z is caused by MORC2 mutations and presents with axonal neuropathy. MORC2 mutations can also manife…
Detecting adaptive changes in gene copy number distribution accompanying the human out-of-Africa expansion
Genes with multiple copies are likely to be maintained by stabilizing selection, which puts a bound to unlimited expansion of copy number. We desig…
Challenges in classifying human chromosomal heteromorphisms using banding cytogenetics: From controversial guidelines to the need for a universal scoring system
Chromosomal heteromorphisms (CHs) are morphological variations predominantly found in constitutive heterochromatic regions of the genome, primarily…
Population genetic diversity and environmental adaptation of Tamarix hispida in the Tarim Basin, arid Northwestern China
Arid ecosystems, characterized by severe water scarcity, play a crucial role in preserving Earth’s biodiversity and resources. The Tarim Basin in…