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Spectrum: Autism Research News

Tag: whole-genome sequencing

June 2022

Unlocking the mitochondrial genome for autism research

by  /  1 June 2022

The DNA specific to mitochondria is difficult to access, but new methods place its secrets within reach.

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May 2022

Autism and the complete human genome: Q&A with Evan Eichler

by  /  10 May 2022

Scientists have at last filled in the missing gaps — an advance likely to inform every aspect of autism genetics research, Eichler says.

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December 2021

Trends in autism research 2021

 /  23 December 2021

As 2021 comes to a close, Spectrum recaps some of the biggest trends in autism science this year: studies of sex differences, noncoding regions of the genome and points of convergence, as well as efforts to improve screening and participatory research.

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Nighttime crowded Shanghai street scene with illumination from electric and neon signs.

New resource tracks genetic variations in Han Chinese populations

by  /  9 December 2021

An online database called NyuWa catalogs genetic variations among nearly 3,000 individuals and provides a comprehensive reference genome for the Han people.

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November 2021
A gloved-hand holds up a vial against a background of colorful lights that represent a sequenced genome.

Genetic effects stack up in some people with autism

by  /  23 November 2021

Rare variants that alter the expression of genes in the brain contribute to autism in people who also have a rare autism-linked mutation, according to a new study.

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October 2021
Simple flat color DNA helix in two tones of blue.

Autism-linked genetic variants increase, decrease intelligence

by  /  19 October 2021

Common and rare variants in or near autism-associated genes can have opposite effects on cognition.

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September 2021
Abstraction of human genome data with some sections circled.

Analysis ups estimate of spontaneous mutations’ role in autism

by  /  27 September 2021

Spontaneous genetic mutations contribute to autism in 30 to 39 percent of all people with the condition, and 52 to 67 percent of autistic children whose siblings do not also have the condition.

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circuit board style lines in black and white suggest sperm approaching an egg.

Mutations linked to autism may be detectable in men’s sperm

by  /  16 September 2021

An advanced DNA-sequencing technique has identified gene-damaging mutations, some with ties to autism, in about 1 in 15 men.

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August 2021

Mutations in the noncoding genome contribute to autism

by  /  2 August 2021

Spontaneous mutations in parts of the genome that regulate gene EBF3 appear to contribute to autism risk.

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July 2021
Colorful, playful illustrated scene of ewborns on a conveyor belt moving past researchers holding a long, long list.

The push to screen newborns for rare autism-linked genetic conditions

by  /  28 July 2021

As treatments for some autism-linked genetic conditions inch closer to the clinic, researchers are talking more urgently about screening all newborns for such conditions.

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