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 [...]
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 [...]
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 [...]
OCTOBER 24TH, 2019 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. The Other Structural Variations: UPD & Retrotransposition Prevalence of uniparental disomy in general population: UPD is twice as common as previously thought. Study identifies 675 instances of UPD across 23andMe & [...]
We ran all 3364 posters presented at ASHG 2019 through our Natural Language Processing (NLP) engine to gain insights into this year's research trends. Here we're sharing some of our findings on the genes and diseases in the research.Top GenesThe usual suspects hit the top of the most researched genes list, BRCA1, BRCA2, TP53 and [...]
We’re extremely happy to announce Pathorolo, the first machine learning algorithm developed to assess the likelihood of solving a genomics clinical case with currently available information.WhatPathorolo scores each case, and the score is associated with a probability of solving the case. The probability is based on case features and on our automatic analysis results, which [...]
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 [...]
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 [...]
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 [...]
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. [...]
