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 [...]
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 [...]
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, [...]
What is SOC-2? SOC-2 is a Service Organization and Control certification for organizations, providing the highest standards of industry-recognized security accreditation. The standard is defined by AICPA (The Americal Institute of Certified Public Accountants) and includes a comprehensive company audit on 5 trust principles: Security Availability Processing Integrity Confidentiality Privacy While SOC-1 is a snapshot [...]
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 [...]
