Breaking Genes

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

Breaking Genes March 28th 2019

2019-03-28T15:39:49+00:00

MARCH 28TH, 2019 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. Hubris meets Humility This was one of our favorite reads this week, but it could have been the title that hooked us in. How will medical genetics be transformed by [...]

Breaking Genes March 28th 20192019-03-28T15:39:49+00:00

Breaking Genes March 14th 2019

2019-03-14T16:21:46+00:00

MARCH 14TH, 2019 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. Happy Pi Day everyone! Big, bigger, biggest It’s here, UK biobank first batch. 49,960 exomes, 4 million coding variants of which ~98.4% have frequency < 1%. The study should offer [...]

Breaking Genes March 14th 20192019-03-14T16:21:46+00:00

Breaking Genes February 28th 2019

2019-02-28T15:56:52+00:00

FEBRUARY 28TH, 2019 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. Advice for the Sleep Deprived We all want to sleep better at night. Will we find the answer in genomics research? I’m guessing big pharma is watching these closely. Nature Genetics [...]

Breaking Genes February 28th 20192019-02-28T15:56:52+00:00

Breaking Genes February 14th 2019

2019-02-14T17:40:00+00:00

FEBRUARY 14TH, 2019 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. Making the case for genetic testing These past 2 weeks yielded interesting research on - yield. Researchers performed prenatal exome sequencing in fetuses with structural anomalies detected by ultrasonography and found [...]

Breaking Genes February 14th 20192019-02-14T17:40:00+00:00
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