Happy Rare Disease Day From Genomics, et al

Rare disease day is February 29, 2020, where many hospitals in Michigan will expand construction projects for more rare disease research on tiny humans to fraudulently bill Medicaid.

The global networks are vast when it comes to the trafficking of tiny humans industry, but Rare Disease Week only comes once a year.

FUN FACT! THE VATICAN HAS A LEVEL 4 LAB FOR TINY HUMANS

Praise the lord from the Detroit Land Bank Authority.

Happy Rare Disease Day!

May the tiny humans lab rats created for Orphan Drug testing always become blessed little angels by the side of a prayer warrior trained to advocate the use of a pew in a neonatal unit.

Hello, Beverly We are celebrating Rare Disease Week in this month's newsletter!  We are humbled to be able to assist great rare disease organizations like BPAN Warriors and The National Foundation for Ectodermal Dysplasias (NFED), respectively. We have provided Mastermind Genomic LandscapesTM for BPAN and Ectodermal Dysplasias to help Pharma and researchers understand the molecular drivers of the diseases, identify biomarkers for clinical trial target selection, and support CDx regulatory submissions with empirical evidence. Read about our work for BPAN Warriors in the Journal of Precision Medicine: READ THE ARTICLE Read this week’s press release about our work for NFED: READ THE PRESS RELEASE

We’re pleased to announce the integration of the Mastermind Genomic Search Engine into Alamut Visual™, a gene browser with advanced features from SOPHiA GENETICS. This integration provides intuitive access to comprehensive and updated genomic information for clinicians and researchers. Learn more about this reference software for human variation exploration: Did You Know? Mastermind is also found within these solutions:

Last Chance to Join Us for Lunch in San Antonio at ACMG! Join the Genomenon team next month during ACMG for our first Mastermind User's Group lunch and a highly interactive session all about the Mastermind Genomic Search Engine. Get insight into future plans for Mastermind, hear how users are accelerating their workflows in extraordinary ways with Mastermind, and give us your input in round-table discussions with our executive team, all while enjoying an authentic taco bar in San Antonio’s beautiful Riverwalk. Only a few spots left! RSVP today! Attendees must be current users of Mastermind. RESERVE YOUR SPOT

Mastermind is the most comprehensive source of genomic evidence covering over 7,500,000 articles, with more added daily. Here are some recent highlights of the great things happening in genomics:

Pinpointing Rare Disease Mutations This study compares knockout mice viability and phenotyping data from the International Mouse Phenotyping Consortium (IMPC) with human cell lines provided by the Broad Institute’s Project Achilles to create categories indicating how crucial a gene is to producing viable life. “Loss of gene function is often referred to as a binary concept; lethal or viable,” says Violeta Muñoz-Fuentes, Biologist, Mouse Informatics at EMBL-EBI. “In this study we show that gene essentiality is more of a spectrum ranging from cellular lethal, developmental lethal, subviable, viable with a visible phenotype, and viable without a visible phenotype.” Read the article in miragenews.com Read the study in nature.com

NIH Scientists Identify Atomic Structure of Novel Coronavirus Protein NIAID scientists working with investigators from the University of Texas at Austin (UT) have identified the atomic structure of an important protein on the surface of the novel coronavirus (SARS-CoV-2, formerly called 2019-nCoV). The authors note that the findings will aid in the design of candidate vaccines and the development of treatments for COVID-19, the disease caused by the new virus, which was first identified in China in December 2019. Read the article in clpmag.com Read the research report in sciencemag.org

Unprecedented Study Yields Most Comprehensive Map of Cancer Genomes to Date The international team ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (known as PCAWG or the Pan-Cancer Project) has completed the most comprehensive study of whole cancer genomes to date in 22 papers, significantly improving our fundamental understanding of cancer and suggesting new directions for its diagnosis and treatment. Thanks to these efforts — and previous full-genome sequences — scientists now have an unprecedented view of the genetic changes that can contribute to cancer, and a clearer idea of where gaps in knowledge remain. Read the article in ucsc.edu View the collection of publications in nature.com

Thanks for reading. Explore and Discover! The Genomenon Team

GENOMICS COMPANY OF THE YEAR 2020

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