ACMG

A re-analysis of genomic tests for 309 children with epilepsy altered diagnoses for more than a third of patients with a previously reported genetic variant.

A Color Genomics collaborator reported that nearly half of first-degree relatives who were invited for reduced-cost testing in cancer-related genes opted to participate.

With exomes for more than 500 individuals with neural tube defects, researchers are narrowing in on new variants that may raise the risk of the serious congenital conditions.

Only three out of 10 sequencing workflows detected all variants in a synthetic reference sample, according to a study presented at ACMG.

The automated tool AMELIE is designed to prioritize candidate genes found in individuals with Mendelian disease, aiding in exome analyses and diagnoses.

At the ACMG meeting, a Johns Hopkins researcher described how she used the social media platform to contact and survey more than 150 patients with two rare diseases.

At the ACMG meeting, Cynthia Morton said that several projects, including her team’s SEQaBOO study, are exploring the utility of genomic testing in newborn hearing screening.

At a time of rapid growth in the consumer genetics space, PerkinElmer and NorthShore are developing digital apps to ease access to genetic disease risk information through Helix.

The so-called ACT sheets are one pagers that guide doctors on what to do after receiving a genetic test results for a patient. 

At the ACMG annual conference in Phoenix last week, several labs and companies discussed their efforts in healthy genome sequencing.

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Consulting company McKinsey says diagnostics companies will have to combine genomic data analysis, electronic medical records, effective reimbursement strategies, and regulatory compliance in order to win.

A new report has found that researchers in Africa are still heavily dependent on funding from organizations in the US, Europe, and China, Nature News says.

An article in The Atlantic argues that the progress being made in science isn't keeping pace with the money and time being spent on research.

In Science this week: a CRISPR screen identifies sideroflexin 1 as a requisite component of one-carbon metabolism, and more.