copy number variation

3 min read 2022-01-28 19:00:00

Population study downgrades some copy number variants’ impact on autism

Some rare mutations linked to autism may boost a person’s chances of having the condition less than prior work suggests, according to a new study,

2 min read 2021-12-08 19:00:00

Mice that lack one copy of TBX1, a gene in the autism-linked 22q11.2 chromosomal region, produce too little myelin — the fatty insulation that

1 min read 2021-11-24 05:08:37

One of October’s headlines in the field of genomics and genetics included the acquisition of BioDiscovery by Bionano Genomics. I spoke with

1 min read 2021-11-17 19:00:00

Two new methods make it possible to delete long sections of the genome, expanding the capabilities of the gene editor CRISPR. The techniques could

1 min read 2021-10-29 18:00:00

About one in four autistic people carries rare genetic mutations in genes strongly linked to autism or other neurodevelopmental conditions, far more

1 min read 2021-10-19 07:00:00

Common and rare variants in or near certain autism-associated genes can have opposite effects on cognition. Likewise, some autistic people carry

1 min read 2021-05-19 02:52:55

Golden Helix has just released VarSeq v2.2.3. In this update, there are notable changes that can improve CNV calling capabilities covered in this

1 min read 2021-04-09 05:46:00

We are excited to share our latest publication with The Journal of Precision Medicine, “Implementing the ACMG Guidelines for CNV in a Commercial

2 min read 2021-02-17 07:34:53

Our latest release of the VarSeq software has had a major upgrade with the addition of the new CNV ACMG guidelines! Here are some recent webcasts

2 min read 2021-02-01 19:00:00

People with mutations in distant chromosomal regions often share a range of autism traits, even if they do not meet the diagnostic threshold for

5 min read 2021-01-19 19:00:50

Advances in genetic research have revealed that some mutations can lead to a wide array of outcomes. About 21 percent of people with deletions in the

5 min read 2021-01-13 20:00:30

Two studies published in Nature Neuroscience implicate mosaic mutations arising during embryonic development as a cause of autism spectrum disorder

2 min read 2021-01-11 23:00:00

Mutations seen in only some of the body’s cells often affect gene activity in the brains of people with autism, and can involve large segments of

3 min read 2020-12-04 12:00:00

A new study pinpoints genes and cell types that may account for the atypical brain structure in people with genetic conditions related to

3 min read 2020-11-30 19:00:00

People who have large mutations associated with autism and schizophrenia share atypical patterns of brain connectivity, according to a new study,