Breaking Genes

Breaking Genes January 16th 2020

2020-01-16T12:54:56+00:00

JANUARY 16TH, 2020 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. Landscape of CNVs in 100K cohort Genotyping of 100,028 European ancestry subjects identifies thousands of rare CNVs associated with 4 major disease categories: autoimmune, cardio-metabolic, oncologic, & neurological/psychiatric. The average CNV burden [...]

Breaking Genes January 16th 20202020-01-16T12:54:56+00:00

Breaking Genes January 2nd 2020

2020-01-06T10:22:57+00:00

JANUARY 2ND, 2020 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. Keeping up with genomes Genome Medicine has a special issue devoted to ‘Clinical interpretation of genome variation’. In the lead editorial, guest editors Rehm and Fowler reiterate the need for [...]

Breaking Genes January 2nd 20202020-01-06T10:22:57+00:00

Breaking Genes December 19th 2019

2019-12-19T17:29:31+00:00

DECEMBER 19TH, 2019 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. Is AI making healthcare more human? MIT Technology Review and GE Healthcare surveyed 900 healthcare professionals on AI within their organizations. Over 70% believe AI improves workflows and disease predictions, [...]

Breaking Genes December 19th 20192019-12-19T17:29:31+00:00

Breaking Genes December 5th 2019

2019-12-05T14:04:29+00:00

DECEMBER 5TH, 2019 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. Newborn Genetic Testing Phenotype-based selection of critically ill neonates increases the likelihood of receiving a molecular diagnosis via rapid-turnaround exome sequencing, resulting in faster and more accurate diagnosis while reducing [...]

Breaking Genes December 5th 20192019-12-05T14:04:29+00:00

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