NCI Division of Cancer Control and Population Sciences的动态

Each person has several million genomic variants and only a very small subset of these variants play a role in human health and disease — but which ones? How genomic variations affect genome function and in turn influence human traits is challenging to study partly because of the sheer number of genomic variants that have been identified. To understand the functional effects of genomic variation, NHGRI launched a consortium in 2021 called?Impact of Genomic Variation on Function (IGVF). Learn more! https://lnkd.in/e57KDmy7

Even with the remarkable similarities among all human genome sequences, it is not appropriate to use a single, or even a few, reference genome sequences to represent all people.? ? ? By having a larger collection of reference genome sequences (which can be used to construct a pangenome reference that better represents the many different human populations), researchers will be able to more accurately and more completely detect genomic variants in all people.? ? ? ? Most importantly, a high-quality human pangenome reference will help researchers gain a more-complete understanding about the links between genomic variation and human disease in all populations.? ? ? Human Pangenome Reference Consortium is generating a large set of reference human genome sequences (for use in constructing a pangenome reference), which will be more accurate and more diverse than anything previously available. The group aims to reach 350 reference human genome sequences this year.? ? I encourage you to learn more about NHGRI’s efforts to develop a human pangenome reference! https://lnkd.in/emsMwG7z?

Something highly interesting to watch on a rainy summer day: ?? The recordings of the Genomic Data Infrastructure (GDI) project online workshop “Towards the Implementation of #NationalGenomicPlans in EU countries" are now available as a YouTube playlist and on the 1+MG Framework website: ?? https://loom.ly/Gcafbx4

** survey is now closed ** Hi #GeneChat, You are invited to participate in a study that aims to explore the perspectives of genetics healthcare professionals on the reporting of Genes of Uncertain Significance (GUS) from clinical exome and genome sequencing. Through this survey, we hope to better understand clinician perspectives on GUSs, the types of results they want to receive and the resources they currently use or would like to use to resolve these findings. The survey should take approximately 15 minutes and is completely anonymous. The survey can be saved mid-progress and returned to later (however, if you lose the pin to return to the survey, you will need to start over). ? If you are interested in completing this survey, please click on the following link: https://lnkd.in/gkFfZpFU or scan the QR code below! Please share this link with other eligible genetics clinicians who may be interested in participating.

"Obelisks" are a newly identified class of heritable RNA elements with small, circular genomes and unique protein-coding sequences. Found in diverse environments, they are common in human microbiomes, especially in the oral and stool samples. A specific obelisk was identified in Streptococcus sanguinis, though it isn’t essential for the bacteria’s growth. This discovery highlights obelisks as a widespread yet previously unnoticed RNA class with unclear impacts. https://lnkd.in/dWAUwPPv

For rare disease researchers, filtering out common or benign variants is an important step in variant analysis. Major SV databases were built on short-read data, so aren’t as helpful when annotating and interpreting SVs found by long reads. CoLoRSdb represents a diverse set of SVs found by long reads in different populations, and is an important tool for improving variant curation. Many thanks to the contributing researchers and institutions! Check out the data yourself here: https://lnkd.in/eDx7xe4q

1 day out of 1465 days. The weekly calendar indicates that a leap year occurs only once every 208 weeks. Even an annual calendar shows that a leap year occurs once every four years. At best, in the grand scheme of things, we can discover that something as rare as February 29th exists. Always use the broadest possible approach to detect rare and very rare events.?Use whole genome sequencing to reveal rare and ultra-rare diseases. GeneTiCA Group is here to help you diagnose rare diseases by NGS! #NGS #WGS #raredisease #rarediseaseday #illumina

Don’t let the robots fool you—this incredible work is overseen by top technicians with robotics as a multiplier to bring patients more diagnostic tests faster and with less impact on the patient. I’m always amazed at the innovative advances that change the patient experience for the better. When I was pregnant with my second baby (now about to turn 20!), I underwent an amniocentesis because of what the doctor called “advanced maternal age” (rude!). It carried risk and discomfort and was just plain scary. Because of this lab, just one example is that expecting mamas can have a non-invasive pre-natal screening test that measures small pieces of fetal DNA in the mother's blood to detect certain chromosome disorders, including Down Syndrome. How incredible! And, spoiler alert—the robots are just the size of a home printer but if picturing C-3PO working with the experts in the lab brings you comfort, feel free! #genomictesting #innovation #healthcareadvances #newlaboratory #patientexperience #patientoutcomes #robotics #robots #C3PO Kevin L. Hart Kerri Leedy Jason M. Guardino, DO, MS Ed., FACP

Our new innovative, state-of-the art genomics lab will expand diagnostic testing capabilities and provide early screening and intervention. Through expanded genetic and genomic testing, we will be able to diagnose diseases more easily by screening for hundreds of genetic conditions at a single time, while also exploring and monitoring treatment options, and determining whether patients may be at risk for other diseases in the future. Learn more in this Mercury News article: https://lnkd.in/gZyFXEir

Next generation sequencing (NGS): Massive parallel sequencing method Is a powerful technique with relatively high output (able to sequence whole bacterial or viral genome at once ) used mainly in the diagnosis of inherited disorders, and study the relationships among organism and the microorganisms (phylogenetic). The most prevalent version is Illumina which uses sequencing by synthesis technique