Nature Genetics new research: rare genetic variants in unknown genes may pose significant risks

Researchers have identified a type of rare genetic differences that have been passed from parents without autism to their affected children with autism, and have determined that these differences are most common in "multiple" families with more than one family member Stand out

These findings were published in the journal Nature Genetics, reporting that very rare genetic variants have recently hinted at new candidate risk genes for autism

Scientists are tracking genes related to autism, and now technology and drastically reduced costs allow to gather the genomes of thousands of people with autism and their family members

This new study is worth noting because most of the autism genes discovered so far have been determined through de novo mutation studies.

Corresponding author of the article, Dr.

"Although most autism research focuses on de novo mutations, this research focuses on rare genetic mutations, which are often understudied in autism.

It is widely believed that de novo mutations can not explain all the genetic causes of autism, a phenomenon sometimes called "genetic deletion"

Dr.

The researchers also said that this study confirmed their expectations that such rare genetic variants are more prominent in families with multiple autistic members than in families with only one affected individual

The study also emphasizes the need for greater diversity when conducting such research, because researchers are unable to detect rare variants in ancestral groups that are underrepresented in genomic studies (including descendants of Africa, East Asia, and South Asia)

(Biocom)

Original link:

http://dx.