sequencing

Use of Whole Exome Sequencing and Carrier Screening for Birth Defects

Use of Whole Exome Sequencing and Carrier Screening for Birth Defects

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Content sponsored by BGI GenomicsDecember 8, 2022Reviewed by Olivia Frost In this interview, NewsMedical speaks with Renyi Hua, Maternal-Fetal Medicine and Prenatal Diagnostics Specialist at International Peace Maternity and Children’s Hospital, Shanghai, China, about her experience using whole exome sequencing and carrier screening tests. What types of patients are treated at International Peace Maternity and …

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Putting STEM to Work: Efficient Gene Sequencing Through Automation

Putting STEM to Work: Efficient Gene Sequencing Through Automation

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Thanks to the generous support of Regeneron, River Journal publishes four times a year the on-the-spot report of a River Towns high school science student who is paired with a Regeneron scientist to find out what it’s like to put education STEM at work in the real world. Edmund Tsou is a junior at Briarcliff …

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Whole genome sequencing helps team publish China's first population blood atlas

Whole genome sequencing helps team publish China’s first population blood atlas

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14 viruses widely present in the Chinese population. Credit: Cell discovery (2022). DOI: 10.1038/s41421-022-00476-1 Whole genome sequencing technology can discover various known or unspecified viral sequences contained in human blood, which can provide an important database for viral infection prevention, vaccine development, viral genomics and epidemiological research. For example, many common cancers are associated with …

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Key factors in the family-level usefulness of pediatric genomic sequencing: a qualitative analysis to support preference research – European Journal of Human Genetics

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Regier DA, Weymann D, Buchanan J, Marshall DA, Wordsworth S. Assessing health and non-health outcomes of next-generation sequencing: approaches, challenges, and solutions. Value health. 2018;21:1043–7. Google Scholar article Smith HS, McGuire AL, Wittenberg E, Lavelle TA. Impact of genetic testing on the family: integration of health economics and ethical, legal and social implications. Personalized med. …

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Flowchart showing the model training process from data QC, through model training, accuracy calculation, and performance comparison.

MGI Sequencing Platform and Sentieon Machine Learning Model Help Improve Small Variant Calling Accuracy for Whole Genome Sequencing Data

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DNAscope, a germline variant calling pipeline from San Jose-based analytics firm Sentieon, achieved superior SNP and indel accuracy compared to other standard datasets, according to a recent preprint from the company. The study authors coupled DNAscope with MGI Standard MPS chemistry, forming a new DNAscope model for the MGI DNBSEQ-G400* sequencing platform. The highly accurate …

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Brush Up: High Throughput Sequencing Technologies

Brush Up: High Throughput Sequencing Technologies

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Keep up to date with the latest scientific advances with Brush Up Summaries. What is High Throughput Sequencing?High-throughput sequencing (HTS) technologies allow researchers to determine the order of nucleotides in DNA and discover new parts of the genome faster and easier than previous methods. In 2001, scientists completed the first draft of the human genome …

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Stanford Medicine scientists sequence patient's entire genome in just five hours using Nanopore Genome Sequencing, AI and cloud computing

Stanford Medicine scientists sequence patient’s entire genome in just five hours using Nanopore Genome Sequencing, AI and cloud computing

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And in less than eight hours, they had diagnosed a child with a rare genetic disease, results that would take weeks of clinical laboratory testing, demonstrating the clinical value of the genomic process. In another major advance in genetic sequencing, scientists at Stanford University School of Medicine have developed a method of rapidly sequencing the …

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Global Pharmacogenomics Markets, Analysis and Forecast, 2016-2021, 2021-2026F, 2031F: Focus on Next Generation Sequencing, Polymerase Chain Reaction, Gel Electrophoresis, Mass Spectrometry, Microarrays DNA

Global Pharmacogenomics Markets, Analysis and Forecast, 2016-2021, 2021-2026F, 2031F: Focus on Next Generation Sequencing, Polymerase Chain Reaction, Gel Electrophoresis, Mass Spectrometry, Microarrays DNA

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Dublin, Nov. 11, 2022 (GLOBE NEWSWIRE) — The Pharmacogenomics Global Market Report 2022 has been added to from ResearchAndMarkets.com offer. The global pharmacogenomics market is expected to grow from $6.64 billion in 2021 to $7.23 billion in 2022 at a compound annual growth rate (CAGR) of 8.93%. The pharmacogenomics market is expected to reach $10.51 …

Global Pharmacogenomics Markets, Analysis and Forecast, 2016-2021, 2021-2026F, 2031F: Focus on Next Generation Sequencing, Polymerase Chain Reaction, Gel Electrophoresis, Mass Spectrometry, Microarrays DNA Read More »

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World’s largest autism whole-genome sequencing study reveals 134 autism-linked genes

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Summary: The researchers identified 134 genes associated with autism and a range of genetic alterations associated with ASDs. Notably, the study identified changes in copy number variations with likely associations with ASDs, including autism-associated variants in 14% of people on the autism spectrum. Source: Hospital for sick children Researchers at the Hospital for Sick Children …

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