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Tag: rare variants

July 2020
Man working from home office.
News

INSAR 2020, from home

by  /  31 July 2020

Like so many other events this year, autism’s biggest annual conference — the International Society for Autism Research meeting — was forced to go virtual because of the coronavirus pandemic.

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June 2020
News

Study links gene to inherited form of autism

by  /  25 June 2020

Mutations in both copies of a gene called ACTL6B lead to autism, epilepsy and intellectual disability.

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A genome data set shows colorful clusters by ancestry
News / Toolbox

Massive genomic database helps decode mutations’ effects

by  /  24 June 2020

A trove of DNA sequences from 141,456 people — and counting — offers an unparalleled look at genetic variation.

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May 2020
News

Rare mutations in autism genes tied to intellectual disability

by  /  22 May 2020

A new study highlights the challenge of distinguishing genetic variants linked to autism from those associated with cognitive development.

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March 2020
Portrait of Elise Robinson in her sunroom surrounded by plants
News / Profiles

Elise Robinson: Untangling the roots of cause and effect

by  /  19 March 2020

Even as a small child, geneticist Elise Robinson wondered why people think the way they do. Today, that question informs much of her autism research.

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February 2020
Toddler is balancing with help from mom
News

Little-known gene tied to autism, developmental delay

by  /  28 February 2020

Rare mutations in a gene called BAZ2B are associated with various conditions of brain development, including autism.

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January 2020
People from Asia have high genetic diversity due to historical mixing with many ethnic groups, represented here by different colors. Each horizontal strip includes one more geographical region than the strip above it.
News / Toolbox

Catalog of Asia’s genetic diversity may aid search for autism variants

by  /  10 January 2020

A new resource details the genetic diversity of people in Asia and may shed light on genetic conditions such as autism.

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News

Autism’s genetic drivers may differ by sex

by  /  9 January 2020

Autism may stem from a different — and larger — set of genetic mutations in women than it does in men.

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Young man in textured space, environmental factors and genes swarm in and around him
Opinion / Viewpoint

Autism heritability: It probably does not mean what you think it means

by  /  7 January 2020

The question of autism’s heritability is compelling for researchers and laypeople alike, but many people in both groups misunderstand its definition.

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Brain MRIs showing injured blood vessels
News

Study ties gene active in developing brain to autism

by  /  6 January 2020

Mutations in a gene called ZNF292 lead to a variety of developmental conditions, including autism and intellectual disability.

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