Breaking Genes

Breaking Genes November 21st 2019

2019-11-21T12:50:00+00:00

NOVEMBER 21ST, 2019 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. The Reviews There were two reviews this week that we particularly liked. Structural variation The challenges in the detection and interpretation of SVs. New approaches, such as ensemble algorithms, and single-molecule [...]

Breaking Genes November 21st 20192019-11-21T12:50:00+00:00

Breaking Genes November 7th 2019

2019-11-07T15:11:30+00:00

NOVEMBER 7TH, 2019 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. New ACMG guidelines for CNVs They’re here, the new ACMG & ClinGen guidelines for interpretation & reporting of constitutional CNVs we’ve all been waiting for. The new guidelines introduce a scoring [...]

Breaking Genes November 7th 20192019-11-07T15:11:30+00:00

Breaking Genes October 3rd 2019

2019-10-03T11:04:53+00:00

OCTOBER 3RD, 2019 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. CCR5-Δ32 FLet’s get the latest hot news out of the way. A technical artifact resulted in deviation from the Hardy-Weinberg Equilibrium (HWE), negating previous findings associating CCR5-Δ32 with increased mortality. bioRxiv [...]

Breaking Genes October 3rd 20192019-10-03T11:04:53+00:00

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