SNV calling from NGS data

Bionano Reports Third Quarter 2023 Results and Highlights Recent Business Progress

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星期三, 十一月 8, 2023
Spectrum, German Cancer Research Center, Aneuploidy, CMA, MCA, OEM, Sale, Genomics, DSM-IV codes, OGM, NMPA, WES, SVS, IVD, Publication, Rare, Polyploidy, CRISPR, Medtech, International Cancer Genome Consortium, Doctor of Philosophy, GAAP, Acquisition, Research, Poster, Karyotype, Lobotomy Corporation, Genome, Nature Communications, National Medical Products Administration, SNV calling from NGS data, Hospital, Annual general meeting, CGC, Workflow, Bone marrow, KT, CFO, Cancer, ASD, Total, VIA, IPSC, Chromosomal deletion syndrome, SAN, DNA, Outline, Beauty salon, Cryptocurrency, Video game, Vaccine, Management, Medical device, Pharmaceutical industry

Publications featuring OGM increased 61% from the third quarter of 2022 to the third quarter of 2023, including a total of 47 human-focused publications.

Key Points: 
  • Publications featuring OGM increased 61% from the third quarter of 2022 to the third quarter of 2023, including a total of 47 human-focused publications.
  • GAAP gross margin for the third quarter of 2023 was 30%, compared to 25% from the third quarter of 2022.
  • Third quarter 2023 non-GAAP¹ gross margin was 32%, compared to 25% from the third quarter of 2022.
  • Third quarter 2023 non-GAAP operating expense was $31.8 million, compared to $26.3 million in the third quarter of 2022 and $34.6 million in the second quarter of 2023.

Mission Bio’s Tapestri Platform Leveraged by Top Academic and Pharma Institutions to Pinpoint Disease-Driving Clones in Multiple Myeloma

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星期四, 十月 12, 2023
Research, Genetics, Clinical Trials, Other Health, Biotechnology, Pharmaceutical, Health, Science, Oncology, Other Science, Fred Hutchinson Cancer Research Center, Genentech, Erasmus MC, Doctor of Philosophy, Memorial Sloan Kettering Cancer Center, NGS, Multiple myeloma, DNA, Single cell, Bio, SNV calling from NGS data, AML, Flow cytometry, Recurrence, Disease, Exposition, Bone marrow, Acute myeloid leukemia, CNV, Translational medicine, Pharmaceutical industry, Franses Tapestry Archive, MD

This breakthrough data demonstrates the potential for single-cell multi-omics to improve myeloma patient stratification and disease surveillance.

Key Points: 
  • This breakthrough data demonstrates the potential for single-cell multi-omics to improve myeloma patient stratification and disease surveillance.
  • Annually, MM, a blood cancer originating from bone marrow, results in approximately 200,000 new diagnoses globally.
  • Mission Bio's Tapestri Platform is a unique tool that provides detailed information on clonal evolution and potential therapeutic targets at a single-cell level of resolution.
  • The data were presented at the 13th World Clinical Biomarkers & CDx Summit and the 20th International Myeloma Society Annual Meeting and Exposition.

Somatic Mutations in Single-Cell Sequencing: Separating Signal from Noise, Upcoming Webinar Hosted by Xtalks

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星期一, 十月 16, 2023
Health informatics, Somatic mutation, Cell, Algorithm, DNA, Whole genome sequencing, SNV calling from NGS data, Doctor of Philosophy, PTA, DNA repair, Harvard Medical School, Cell division, Postdoctoral researcher, Antibiotics, Vaccine

TORONTO, Oct. 16, 2023 /PRNewswire-PRWeb/ -- Discover a groundbreaking webinar delving into the development of SCAN2 and how this algorithm enables single-cell sequencing with high accuracy for somatic mutations. Somatic mutations arise due to DNA damage or errors in DNA synthesis and are propagated through cell division. Unlike inherited variants, somatic mutations are shared by only a fraction of the cells in an organism. Numerous algorithms have been developed to identify somatic mutations present in clonal populations in cancer cells. But, for non-cancer cells, the majority of somatic mutations — other than those that arise very early in development — are shared by very few cells or can even be private to a single cell. To identify such mutations, new detection techniques are required.

Key Points: 
  • In this free webinar, delve into the development of SCAN2 and how this algorithm enables single-cell sequencing with high accuracy for somatic mutations.
  • TORONTO, Oct. 16, 2023 /PRNewswire-PRWeb/ -- Discover a groundbreaking webinar delving into the development of SCAN2 and how this algorithm enables single-cell sequencing with high accuracy for somatic mutations.
  • Somatic mutations arise due to DNA damage or errors in DNA synthesis and are propagated through cell division.
  • Join this webinar to gain insights into the SCAN2 algorithm and how it enables single-cell sequencing with high accuracy for somatic mutations.

Global and Regional Rare Disease Genetic Testing Market Analysis & Forecasts Report 2023-2033 - ResearchAndMarkets.com

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星期一, 十月 9, 2023
Health, Genetics, Diagnosis, Incidence, Parent, Hospital, DSM-IV codes, Physician, Exome, Plasma, Research, SRL Diagnostics, Genome, Prevalence, PCR, BGI Group, NGS, DNA, CVS, Risk, SNV calling from NGS data, Sanger, Massive parallel sequencing, Metabolism, Amniocentesis, Genetic code, Disease, State Key Laboratories, R, Inherit, Genomics, Patient, Polymerase chain reaction, WES, WGS, Genetic counseling, Growth, Genetic testing, Region, National Centre for Foreign Animal Disease, Gene, Rare, Chromosome, Fetus, Cardiogenic shock, Serum, Birth, Gastroenterology, Pharmaceutical industry, Medical imaging, Vaccine, Medical device, Dietary supplement

The "Rare Disease Genetic Testing Market - A Global and Regional Analysis: Focus on Disease Type, Offering, Specialty Type, Sample Type, Trait Type, Technology, Age Group, End User, and Country Analysis - Analysis and Forecast, 2023-2033" report has been added to ResearchAndMarkets.com's offering.

Key Points: 
  • The "Rare Disease Genetic Testing Market - A Global and Regional Analysis: Focus on Disease Type, Offering, Specialty Type, Sample Type, Trait Type, Technology, Age Group, End User, and Country Analysis - Analysis and Forecast, 2023-2033" report has been added to ResearchAndMarkets.com's offering.
  • The global market for rare disease genetic testing encompasses an array of panels and tests that excel in detecting rare diseases.
  • The global rare disease genetic testing market has experienced remarkable growth, driven by the escalating demand for early detection of rare diseases.
  • Moreover, a maximum number of rare disease testing is done there, due to which these regions hold the maximum share in the global rare disease genetic testing market.

Global and Regional Rare Disease Genetic Testing Market Report 2023-2033: Early Detection Demand and Innovative Systems Usher in New Era for Rare Disease Genetic Testing

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星期二, 十月 3, 2023
Chromosome, DNA, Sanger, National Centre for Foreign Animal Disease, Gastroenterology, Prevalence, BGI Group, DSM-IV codes, Serum, Disease, Fetus, Genomics, Parent, Hospital, Cardiogenic shock, SRL Diagnostics, NGS, Amniocentesis, CVS, Genetic testing, Research, Birth, Genetic code, Exome, Incidence, Genetic counseling, Plasma, Metabolism, Patient, Polymerase chain reaction, Physician, Risk, State Key Laboratories, WGS, Inherit, Growth, Diagnosis, Region, R, Rare, WES, SNV calling from NGS data, Massive parallel sequencing, Gene, PCR, Genome, Pharmaceutical industry, Medical imaging, Vaccine, Medical device, Dietary supplement

The global market for rare disease genetic testing encompasses an array of panels and tests that excel in detecting rare diseases.

Key Points: 
  • The global market for rare disease genetic testing encompasses an array of panels and tests that excel in detecting rare diseases.
  • Among the most prevalent rare disease genetic testing panels are those tailored for gastroenterology, endocrine and metabolic disorders, and neurological diseases.
  • The global rare disease genetic testing market has experienced remarkable growth, driven by the escalating demand for early detection of rare diseases.
  • Moreover, a maximum number of rare disease testing is done there, due to which these regions hold the maximum share in the global rare disease genetic testing market.

Bionano Announces Peer-Reviewed Publication on the Utility of Combining OGM and WES for Evaluation of Pediatric Leukemia

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星期三, 九月 6, 2023
HD, ETV6, FISH, Genomics, Fluorescence, STAG2, KT, NGS, SVS, BTG1, IKZF1, Karyotype, BCP, PDS5B, SNP, SAN, MANBA, German Cancer Research Center, In situ hybridization, TBL1XR1, WES, Leukemia, SNV calling from NGS data, OGM, Bone marrow, Medical imaging

SAN DIEGO, Sept. 06, 2023 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) today announced a peer-reviewed publication from researchers at the German Cancer Consortium (DKTK) showing the utility of optical genome mapping (OGM) and whole-exome sequencing (WES) in better understanding the mutational landscape of pediatric B-cell precursor acute lymphoblastic leukemia (BCP-ALL).

Key Points: 
  • SAN DIEGO, Sept. 06, 2023 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) today announced a peer-reviewed publication from researchers at the German Cancer Consortium (DKTK) showing the utility of optical genome mapping (OGM) and whole-exome sequencing (WES) in better understanding the mutational landscape of pediatric B-cell precursor acute lymphoblastic leukemia (BCP-ALL).
  • Researchers compared the analysis of 60 pediatric BCP-ALL samples using traditional cytogenetic methods against OGM and WES, finding that OGM and WES may provide novel insights into disease development and progression.
  • It also shows the potential of combining OGM with WES to identify double hits, which are highly significant.
  • It’s noteworthy that long-read sequencing confirmed the fusions detected by OGM once OGM revealed the regions in which to look for them, highlighting the possibility that OGM can be a primary tool used alongside short-read next-generation sequencing (NGS).

Geneseeq Gains CE Marks for NGS-based Test Kits for Solid Tumors and Hematological Cancer

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星期二, 八月 22, 2023
Genetically modified food in the European Union, DNA, MMR, CE marking, TMB, LGR, Microsatellite instability, HRD, Bone marrow, NGS, Cancer, DNA mismatch repair, Multimedia, RNA, CNV, Drug resistance, Chromosomal translocation, MSI, Genetic testing, SNV calling from NGS data, PARP, Gene, Vaccine

TORONTO, Aug. 22, 2023 /PRNewswire/ - Geneseeq Technology Inc. has announced that three of our next-generation sequencing (NGS)-based cancer genetic testing kits, GENESEEQPRIME NGS Tumor Gene Detection Kit (GeneseeqPrime ™), GENESEEQ Homologous Recombination Deficiency Detection Kit (GeneseeqPrime™ HRD), and GENESEEQ Blood Cancer Gene Detection Kit (Hemasalus™ DNA/Hemarna™ RNA), have obtained the European Union's CE Mark approval.

Key Points: 
  • TORONTO, Aug. 22, 2023 /PRNewswire/ - Geneseeq Technology Inc. has announced that three of our next-generation sequencing (NGS)-based cancer genetic testing kits, GENESEEQPRIME NGS Tumor Gene Detection Kit (GeneseeqPrime ™), GENESEEQ Homologous Recombination Deficiency Detection Kit (GeneseeqPrime™ HRD), and GENESEEQ Blood Cancer Gene Detection Kit (Hemasalus™ DNA/Hemarna™ RNA), have obtained the European Union's CE Mark approval.
  • These approvals signify that GeneseeqPrime™ and GeneseeqPrime™ HRD are suitable for solid tumor genomic profiling, while Hemasalus™ DNA/Hemarna™ RNA is cleared for hematological cancer genomic profiling.
  • In addition to the CE-Marked GENESEEQ multi-cancer minimal residual disease detection (Shielding™ ULTRA MRD) and GENESEEQ multi-cancer early detection (CanScan™ MCED) kits introduced earlier this year , Geneseeq currently offers five CE-marked cancer genetic testing kits tailored for various clinical situations.
  • These kits will now be accessible to healthcare professionals in Europe, enabling them to formulate treatment plans for individuals affected by cancer.

Tempus Receives U.S. FDA Approval for xT CDx, a NGS-Based In Vitro Diagnostic Device

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星期一, 五月 1, 2023
Oncology, Health, FDA, Genetics, General Health, Pharmaceutical, Biotechnology, DNA, Microsatellite instability, NGS, DNA sequencing, Clinical trial, Cancer, Intelligence, Indel, PMA, XT, Patient, Collection, Physician, Colorectal cancer, MSI, Medicine, CDX, SNV calling from NGS data, Regulation of food and dietary supplements by the U.S. Food and Drug Administration, Gene, Food, Medical device, Vaccine, Tempus

Tempus, a leader in artificial intelligence and precision medicine, today announced that the U.S. Food and Drug Administration (FDA) has approved the company’s first Premarket Approval (PMA) application for its companion diagnostic test, xT CDx .

Key Points: 
  • Tempus, a leader in artificial intelligence and precision medicine, today announced that the U.S. Food and Drug Administration (FDA) has approved the company’s first Premarket Approval (PMA) application for its companion diagnostic test, xT CDx .
  • xT CDx is a 648-gene next-generation sequencing test for solid tumor profiling, which includes microsatellite instability status and companion diagnostic claims for colorectal cancer patients.
  • xT CDx is just one of the many solutions Tempus is applying to advance precision oncology.
  • For the complete xT CDx label, including companion diagnostic indications and important risk information, please visit https://www.tempus.com/resources/document-library/tempus-xt-cdx_technica... .

Agilent Announces NGS Assay for Comprehensive Genomic Profiling (CGP) for Advancing Precision Oncology

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星期四, 四月 13, 2023
Biotechnology, Genetics, Health, Oncology, DNA, Partnership, TMB, Therapy, Workflow, Microsatellite instability, CGP, NGS, Cancer, Biomarker, CNV, Chemistry, Agilent Technologies, Chromosomal translocation, Bravo, Data analysis, Acquisition, MSI, Glasgow Precision Oncology Laboratory, Neoplasm, Glasgow, SNV calling from NGS data, Gene, NYSE, Medical imaging

Agilent Technologies Inc. (NYSE: A) today announced the launch of the Agilent SureSelect Cancer CGP Assay designed for somatic variant profiling for a broad range of solid tumor types.

Key Points: 
  • Agilent Technologies Inc. (NYSE: A) today announced the launch of the Agilent SureSelect Cancer CGP Assay designed for somatic variant profiling for a broad range of solid tumor types.
  • The pan-cancer assay design is based on an NGS panel comprising 679 genes globally curated from leading cancer databases and in partnership with key clinical cancer researchers.
  • The assay workflow is efficient, automatable, and flexible, making tumor molecular profiling more accessible to the broad clinical research community.
  • We are proud to partner with clinical researchers and leading cancer centers, such as Glasgow Precision Oncology Laboratory,” added Allen.

MyOme Presents New Data on an Integrated Polygenic Risk Score to Improve Coronary Artery Disease Prediction at the American College of Medical Genetics and Genomics Annual Meeting

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星期四, 三月 16, 2023
Polygene, Research, WGS, Mortality, CAD, Moyamoya disease, Cholesterol, ACMG, Risk, American College of Medical Genetics and Genomics, Death, DSM-IV codes, PCE, Patient, American College, CMA, SNV calling from NGS data, IRS, Diagnosis, Oxford Nanopore Technologies, ASCVD, Doctor of Philosophy, ONT, Coronary artery disease, CNV, Medical genetics, Whole genome sequencing, PRS, Medical imaging, Medical device, Genomics

MENLO PARK, Calif., March 16, 2023 /PRNewswire/ -- MyOme, Inc., a clinical whole genome platform analysis company and a leader in the development of polygenic risk scores with relevance across multiple ancestries, will share data from three presentations at the 2023 American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting being held March 14-18, 2023. Featured as one of only 20 "Rapid Fire" presentations is the development and validation of an integrated polygenic risk score that improved coronary artery disease prediction.

Key Points: 
  • Integrated polygenic risk score can more accurately identify people at high risk of developing coronary artery disease across diverse ancestries over a commonly used clinical tool.
  • Featured as one of only 20 "Rapid Fire" presentations is the development and validation of an integrated polygenic risk score that improved coronary artery disease prediction.
  • Most tests and tools that assess risk for coronary artery disease (CAD), the leading global cause of death, have been validated on a narrow population.
  • To support diverse ancestries, MyOme developed and validated an integrated risk score (IRS) that combines a cross-ancestry PRS (caPRS) with ASCVD-PCE.