Lifebit’s Post

A revolution in single-cell resolution is underway. With ResolveOME™, researchers have the capability to study full genome and transcriptome data from a single cell. By combining genome variation data with transcriptional and translational layers of information, our ResolveOME kit provides a more complete picture of the drivers and consequences of clonal heterogeneity within cell populations. This means more productive research and improved insights into how complex diseases function. Learn more about how ResolveOME enables comprehensive single-cell multiomic analysis: https://lnkd.in/ePWbgg7Y #singlecell #multiomics #genomics #research

Short read and long read sequencing technologies have revolutionized the way researchers understand the role genomics play in healthy and disease states. These approaches have their advantages and disadvantages, and understanding the differences between the two techniques, is essential to choose the optimal technique for specific applications. So which type of sequencing is the right one for you? And which platform suits the scale of your study most appropriately? Find out by reading our article: https://bit.ly/3KXrjZ1 #sequencing #ngs #genomics #pacbio #illumina #AnalyzeIt #TeamSampled

Unleash the power of single-cell sequencing with Novogene! With the advent of single-cell sequencing，researchers can draw out cellular maps better, find heterogeneity relationships between different single cells, and show differences and evolutionary links between cell populations. Click here to explore how single-cell sequencing results can be used and analyzed in different areas of health and medicine for a broad range of applications: https://lnkd.in/gvkZBb8J #SingleCellSequencing #Genomics #ngs #novogene

If you missed last month's Science Magazine webinar, "Emerging Technologies for the Detection of Measurable Residual Disease (MRD): NGS and dCPR," you can watch it on-demand. View the recording: http://spkl.io/60424mflQ Attendees will: -Learn about MRD, including the implications of MRD positivity on treatment -Hear how NGS and dPCR can be leveraged for MRD detection -Hear about current and future research into MRD -Participate in a Q&A session #Science #Research #Genomics #NGS #NextGenSequencing

COMMENT PIECE: ‘Genome profiling at birth – is this the future we want for our children?’. In this thought-provoking comment piece, Professors Helen Firth, Clare Turnball and Anneke Lucassen and Dr Robin Lachmann respond to the publication of an initial list of 223 rare conditions that will be investigated as part of Genomics England's Generation Study. Read the full comment piece on our website: https://lnkd.in/esx9WaXd Be one of the first to get all the news and reviews by signing up to receive our free weekly BioNews newsletter here: https://lnkd.in/epXHmM-4 #genomics #genome #genomesequencing #genomicsequencing #DNA

The AlphaMissense resource from Google DeepMind categorized 89% of all 71 million possible missense variants Out of 69.5 million variants unobserved in gnomAD, AlphaMissense was able to make a confident prediction for 61.7 million (88.8%) missense variants by classifying them as likely benign (38.9 million, 56.0%) or likely pathogenic (22.8 million, 32.8%) Calibrated AlphaMissense scores (ranging between 0 and 1) can be interpreted as the approximate probability of a variant being clinically pathogenic.  #genomics #googledeepmind #rarediseaseresearch #biotech https://lnkd.in/giX2Mi7e

Discover the groundbreaking WEGS (Whole Exome Genome Sequencing) method, a game-changer in genomic studies that combines high-depth WES with low-depth WGS, proving to be more cost-effective and efficient. This innovative approach not only enhances variant calling in multiplexed samples but also offers a comprehensive view of the genome, capturing millions of additional variants. Applied to peripheral artery disease research, WEGS demonstrates its immense potential in advancing our understanding of complex diseases. #Genomics #WEGS #InnovativeResearch #DiseaseStudy #Bioinformatics

Novogene America raises the bar in long-read sequencing! 6 PacBio Revio sequencers join our arsenal, fueling deeper dives into structural variants, hidden repeats, and nuanced epigenetic landscapes. Unravel complex genomes faster, unveil hidden drivers of disease, and personalize medicine like never before. Researchers, the future of NGS is here! #PacBioRevio #Genomics #NGS #customersuccess

Defining new genetic causes of disease requires collaborations between researchers, clinicians, patients and families, and diagnostic laboratories. Meghan Towne, MS, CGC, LGC, explains the importance of continued gene-disease relationships discovery for the genomics community. Explore how labs can harness the power of our collective knowledge to push discovery forward, especially for rare and ultrarare conditions. #genetictesting #genomics #raredisease #exome #GeneMatcher #genechat https://hubs.ly/Q02j2bbR0

Genomic Case Stories: the value of reanalysis A child with a complex neurological phenotype (cerebellar volume loss, seizures), standard WES through a large sequencing company: single CACNA1B for recessive disease, no diagnosis. Discovery DNA retrieved VCF files, bespoke analysis findings: IRF2BPL, de novo, pathogenic. There is some art, in addition to science in finding these things. #genomics #canada