Spinal muscular atrophy (SMA) is a severe neuromuscular disorder caused by biallelic loss
or pathogenic variants in the SMN1 gene. Copy number and modifier intragenic variants in …

Background In the early 20th century, Cuban farmers imported Charolais cattle (CHFR)
directly from France. These animals are now known as Chacuba (CHCU) and have become …

Ascertaining the molecular and physiological basis of domestication and breeding is an active
area of research. Due to the current wide distribution of its wild ancestor, the wild boar, the …

Clinical exome sequencing has the potential to identify pathogenic variants unrelated to the
purpose of the study (secondary findings, SFs). Data describing actual choices of SFs in …

Animal domestication typically affected numerous polygenic quantitative traits, such as
behaviour, development and reproduction. However, uncovering the genetic basis of quantitative …

Background Consanguineous couples have an increased risk of severe diseases in offspring
due to autosomal recessive disorders. Exome sequencing (ES) offers the possibility of …

Introduction Many studies have described the presence of difficulty processing and generating
social behaviour in patients who have suffered a traumatic brain injury (TBI). These …

Introduction Neurosurgery for brain tumors needs to find a complex balance between the
effective removal of targeted tissue and the preservation of surrounding brain areas. …

Animal domestication is an important process in the human history in which different traits of
the animals were selected, such as faster growth or greater docility. To study domestication …

We have entered the big data paradigm. Now that whole genome sequence data is available
on a population scale basis, a fundamental issue is: what can be done with sequence data …