Tag: rare variants

May 2017

Common variants, rare mutations combine to shape autism risk

by  /  15 May 2017

Children with autism inherit a greater burden of common genetic variants associated with autism than would be expected by chance. These variants combine with rare, spontaneous mutations to boost autism risk.


What makes a gene an autism candidate? Not everyone agrees

by  /  11 May 2017

Whether a gene should be considered a ‘novel candidate’ for autism depends not just on whether it’s been linked to the condition before, but on the strength of that link.

February 2017

Many people with harmful genetic variants show no ill effects

by  /  22 February 2017

Most adults with genetic variants tied to certain conditions, such as heart disease or cancer, go undiagnosed.

News / Toolbox

Method reads brain cell signatures to reveal risky mutations

by  /  10 February 2017

A new approach ranks genes’ ties to autism based on their expression patterns in different types of brain cells.

December 2016
Features / Special Reports / 2016: Year in review

Notable papers of 2016

26 December 2016

Our picks for the top 10 papers of the year highlight leaps in our understanding of autism, as well as lingering gaps.

1 Comment
November 2016
Features / Deep Dive

What grandmothers can teach scientists about autism’s inheritance

by  /  9 November 2016

Women who have raised a child with autism may be well-positioned to spot subtle signs of the condition in their grandchildren. A new study puts their powers to good use.

1 Comment
October 2016
A mutation in a human-specific DNA

Autism risk may originate in stretches of uniquely human DNA

by  /  6 October 2016

Mutations in certain newly evolved stretches of the genome may play a role in autism, although some experts are skeptical of this theory.

September 2016
Week of SeptemberSep
News / Spotted

Spectrum of color; biased review; fees please

by  /  30 September 2016

Non-white adults with autism may feel forgotten, names on papers may bias peer reviewers, and eLife will begin charging publication fees.


Mutations tied to autism rife in ‘junk’ DNA

by  /  9 September 2016

More than one-third of the spontaneous mutations linked to autism crop up in genomic segments that do not code for genes.

1 Comment
May 2016
Features / Deep Dive

The gene hunters

by  /  18 May 2016

Criss-crossing the globe on a quest for unusual DNA, researchers have discovered a rare mutation that promises insights into both epilepsy and autism — and points to a treatment.

1 Comment

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