News tagged with copy number variants

First WGS of multiple pancreatic cancer patients outlined in new study

Whole genome sequencing—spelling out all 3 billion letters in the human genome—"is an obvious and powerful method for advancing our understanding of pancreatic cancer," according to a new study from TGen, Mayo Clinic ...

Cancer Oct 10, 2012 | not rated yet | 0 |

Major genetic discovery explains 10 percent of aortic valve disease

Researchers at the Sainte-Justine University Hospital Center and University of Montreal have identified genetic origins in 10% of an important form of congenital heart diseases by studying the genetic variability within families.

Genetics Sep 28, 2012 | not rated yet | 0 |

Rare genetic mutations linked to bipolar disorder

An international team of scientists, led by researchers at the University of California, San Diego School of Medicine, reports that abnormal sequences of DNA known as rare copy number variants, or CNVs, appear to play a significant ...

Genetics Dec 21, 2011 | 5 / 5 (2) | 0 |

Is short stature associated with a 'shortage' of genes?

New research sifts through the entire genome of thousands of human subjects to look for genetic variation associated with height. The results of the study, published by Cell Press in the December issue of the American Jo ...

Genetics Nov 23, 2011 | 4.3 / 5 (4) | 0 |

New ADHD findings

A combination of rare and common genetic variations could play a part in biological pathways linked to Attention Deficit Hyperactivity Disorder (ADHD).

Attention deficit disorders Nov 14, 2011 | 5 / 5 (3) | 0

Mutation clue to disorders in older dads' offspring

Queensland Brain Institute (QBI) researchers have discovered a genetic mechanism that may explain why the children of older fathers are more likely to develop schizophrenia or autism.

Psychology & Psychiatry Sep 01, 2011 | not rated yet | 0 |

Researchers link chromosome region to thoracic aortic disease

Patients with thoracic aortic aneurysms that lead to acute aortic dissections are 12 times more likely to have duplications in the DNA in a region of chromosome 16 (16p13.1) than those without the disease, ...

Genetics Jun 16, 2011 | not rated yet | 0 |