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Spectrum: Autism Research News

Tag: whole-genome sequencing

December 2018
whimsical machine takes in various data and spits out an organized version on the other end

Notable papers in autism research in 2018

by  /  21 December 2018

This year’s list of top papers highlights new dimensions in our understanding of autism genetics and hints at novel treatments.


Analysis spotlights mutations in ‘dark’ regions of the genome

by  /  14 December 2018

Whole-genome scans of nearly 8,000 people link autism to spontaneous mutations in the stretches of DNA that regulate genes.

October 2018
A woman peers through a wall made to look like a genetic sequencing background, through a missing area.

Counseling can ease shock of unexpected genetic results

by  /  23 October 2018

The best way to deliver surprises from genetic findings is to provide adequate information and counseling alongside the results.

letters and numbers made out of mice, MRIs and other materials.

For studies, size matters: Let us count the ways

by  /  17 October 2018

In autism research, as in other fields, small sample sizes can lead to false findings. The size of the sample needed for statistical significance depends on the type of study.

lab slides on pink background form a pattern.

Studying genetics in the age of big data

by ,  /  4 October 2018

New biomedical techniques, like next-generation genome sequencing, are creating vast amounts of data and transforming the scientific landscape.

September 2018
Three games on a table, bead mazes.

How genetics is revealing rare childhood conditions

by ,  /  21 September 2018

A pioneering project is showing how, 17 years since the first draft of the human genome, our genes are giving up their secrets and bringing hope to parents around the world.

DNA twisting in black space

Two tools speed the search for mutations in whole genomes

by  /  14 September 2018

Software to identify genetic variants, along with a new synthetic human genome, could help scientists discover mutations associated with conditions such as autism.

May 2018

Hunt for autism variants between genes comes up empty

by  /  7 May 2018

To find variants between genes that contribute to autism, researchers may need thousands more whole genomes than they have now.

April 2018
four scientists standing on colorful tile

CRISPR goes wild, and scientists debate its fidelity

by  /  30 April 2018

The gene-editing tool CRISPR may cause thousands of off-target mutations, but critics say it’s way too soon to accuse it of infidelity.

genetic code sequences

Map of DNA variation identifies key genetic regions

by  /  20 April 2018

A new analysis of the genomes of more than 11,000 people reveals regions that have few mutations, indicating they have important functions.