Albert Einstein College of Medicine Genomic Newborn Screening Studies Around the World Begin to Take Baby Steps Premium At the inaugural International Conference on Newborn Sequencing (ICoNS) in Boston last week, researchers outlined plans from eight studies in the US, the UK, Europe, and Australia. Single-Cell Sequencing Study Finds Increased Single-Nucleotide Mutation Rate in Lungs of Smokers This mutation rate increased linearly until 23 pack-years of exposure before plateauing, suggesting there may be mechanisms limiting mutation accumulation. New Variation of Duplex Sequencing Method Improves Low-Frequency Somatic Mutation Detection Premium The technique, called single-molecule mutation sequencing (SMM-seq), uses rolling circle amplification to increase the number of copies of parental strands used for sequencing. Centenarian Exome Analysis Points to Conserved Longevity Pathways Researchers found rare coding variants in conserved pathways that appear to be associated with longevity and potentially protect against aging. Cervicovaginal Microbiomes of HPV-Infected Women Lead To Potential Pre-Cancer Marker Profiling microbial communities in cervicovaginal samples from women carrying high-risk HPV strains, researchers found possible markers of pre-cancer progression. Dec 20, 2019 Study Sees Possible Common Variant Modifiers For Syndromic Heart Condition Oct 16, 2019 Cytek Pushing Boundaries of Flow Cytometry With Updated Spectral Analyzer Premium Apr 17, 2019 Single-Cell Study Finds Mutations Accumulate in Human B Lymphocytes With Age Mar 7, 2019 NYCKidSeq Project Aims to Improve Communication of Genomic Test Results Premium Dec 21, 2018 Albert Einstein Team Developing Prostate Cancer Metastatic Risk Genomic Assay Premium Nov 14, 2018 Pregnancy-Related Immune Changes Revealed by Single-Cell Placenta Sequencing Jan 29, 2018 Algorithmic Approach Looks to Improve Identification of Misdiagnosis Jan 24, 2018 New Double-Stranded DNA Virus Family Identified Apr 21, 2017 Einstein Researchers Publish Single-Cell Sequencing Prep Method, Launch Firm to Provide Service Premium Mar 16, 2017 Functional Genomic Assay Predicts Breast Cancer Risk Nov 22, 2016 NIH Awards Albert Einstein Scientist $7.5M to Study Genetics of Congenital Heart Abnormalities Sep 2, 2016 NIH Grant to Fund Research on Proteomics, Immunoassay for TB Activation in HIV Patients Premium Mar 3, 2016 APOE Sequencing Confirms Previous Markers of Longevity, Implicates Regulatory Variants Aug 8, 2014 Einstein Scientists Reap $3.3M to Study Longevity Genes and Protection from Frailty Jan 31, 2014 Univ. of Oklahoma, Albert Einstein College of Medicine Receive $3M for Structural Biology Institute Oct 16, 2013 Albert Einstein, Montefiore Land $25M CTSA Funding for Translational Center Jul 30, 2013 IP Watch: CalTech, Synthetic Genomics, Life Tech, LLNL, Others Win US Patents Premium Oct 23, 2012 Team Uses Affy's OncoScan to Develop Prostate Cancer Prognostic Signature, Envisions Clinical Use Premium Oct 15, 2012 Einstein Lands $3M for Longevity, Aging Center Aug 7, 2012 International Team Characterizes Genetic Patterns in North African Jewish Populations Load More Breaking News Bio-Rad Laboratories, Cytek Biosciences Partner on Flow Cytometry Reagents Tecan Inks Deals for NGS Library Prep System With Element Biosciences, Singular Genomics Genomenon, Flagship Biosciences Partner on Biomarker Discovery, Companion Dx Development Velsera to Integrate Arima Genomics Gene Fusion Test in Pierian Clinical Platform Evonetix Raises $24M in Extended Series B Funding Round The Scan Study Points to Tuberculosis Protection by Gaucher Disease Mutation A mutation linked to Gaucher disease in the Ashkenazi Jewish population appears to boost Mycobacterium tuberculosis resistance in a zebrafish model of the lysosomal storage condition, a new PNAS study finds. SpliceVault Portal Provides Look at RNA Splicing Changes Linked to Genetic Variants The portal, described in Nature Genetics, houses variant-related messenger RNA splicing insights drawn from RNA sequencing data in nearly 335,700 samples — a set known as the 300K-RNA resource. Automated Sequencing Pipeline Appears to Allow Rapid SARS-CoV-2 Lineage Detection in Nevada Study Researchers in the Journal of Molecular Diagnostics describe and assess a Clear Labs Dx automated workflow, sequencing, and bioinformatic analysis method for quickly identifying SARS-CoV-2 lineages. UK Team Presents Genetic, Epigenetic Sequencing Method Using enzymatic DNA preparation steps, researchers in Nature Biotechnology develop a strategy for sequencing DNA, along with 5-methylcytosine and 5-hydroxymethylcytosine, on existing sequencers.