Breaking Genes

Breaking Genes September 19th 2019

2019-09-19T17:01:35+00:00

SEPTEMBER 19TH, 2019 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. Fast & Furious Discovery Fast and furious Mendelian gene discovery with no end in sight? That’s a title that gets us excited. Let’s start with the facts, by 2018, CMGs (Centers [...]

Breaking Genes September 19th 20192019-09-19T17:01:35+00:00

Breaking Genes September 5th 2019

2019-09-05T18:39:56+00:00

SEPTEMBER 5TH, 2019 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. Should we CNV? Researchers map the landscape of CNV burden & associations w/ 3000+ phenotypes in the UK Biobank. AJHG Targeted NGS of 500 IRD patients reveals that copy-number variations account [...]

Breaking Genes September 5th 20192019-09-05T18:39:56+00:00

Breaking Genes August 15th 2019

2019-09-05T17:41:04+00:00

AUGUST 15TH, 2019 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. Welcome to Breaking Genes, the high impact factor edition. Although we were going to take a summer publishing hiatus in August, genetics showed up in force in the big medical journals. [...]

Breaking Genes August 15th 20192019-09-05T17:41:04+00:00

Breaking Genes July 18th 2019

2019-07-18T12:51:55+00:00

JULY 18TH, 2019 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. Deeper into the human genome We love it when genomics make it into NEJM, getting attention from the wider medical community. This well-written and interesting review by Evan Eichler out of [...]

Breaking Genes July 18th 20192019-07-18T12:51:55+00:00

Breaking Genes June 20th 2019

2019-06-20T17:14:31+00:00

JUNE 20th, 2019 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. Reanalysis doubles yield Researchers from Baylor reanalyzed a cohort of 250 exomes 6 years later, doubling yield. However manual interpretation isn’t feasible with large amounts of past open cases. They [...]

Breaking Genes June 20th 20192019-06-20T17:14:31+00:00

Breaking Genes June 6th 2019

2019-06-06T11:45:06+00:00

JUNE 6th, 2019 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. RNA-seq diagnostics What’s the utility of RNA-seq from blood as a diagnostic tool for rare diseases? An exciting 7.5% diagnostic rate, and an additional 16.7% with improved candidate gene resolution [...]

Breaking Genes June 6th 20192019-06-06T11:45:06+00:00

Breaking Genes May 23rd 2019

2019-05-23T12:24:05+00:00

May 23rd, 2019 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. The AI Corner Unsupervised learning in medicine! We don’t see this type of ML research often. Instead of training their algorithms with a large data set, these researchers allowed the [...]

Breaking Genes May 23rd 20192019-05-23T12:24:05+00:00

Breaking Genes May 9th 2019

2019-05-09T08:34:09+00:00

May 9TH, 2019 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. Secondary findings, primary news What's the burden of reporting incidental/secondary findings? A study of 700 exome tests found longer pre-test counseling sessions, 55 post-test genetic consultations and to 27 secondary [...]

Breaking Genes May 9th 20192019-05-09T08:34:09+00:00

Breaking Genes April 25th 2019

2019-04-25T12:27:10+00:00

APRIL 25TH, 2019 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. Do you wanna know? Do patients want to know the results of their genetic tests? The answer is yes, if there an effective preventative measure for the disease. Researchers surveyed 650 [...]

Breaking Genes April 25th 20192019-04-25T12:27:10+00:00

Breaking Genes April 11th 2019

2019-04-11T17:57:16+00:00

APRIL 11TH, 2019 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. Deep Learning in Genomics AI anyone? This article exploded in the Twittersphere, with almost 700 tweets at the time of publication. All jokes aside, genomics is a data-driven science and we [...]

Breaking Genes April 11th 20192019-04-11T17:57:16+00:00
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