whole-exome sequencing News

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• Global Research Team Utilizes Whole Exome Sequencing To Identify Novel Congenital Disorder Of Glycosylation Linked To RPN1 Gene

  Published: Apr 16, 2026

  Section: Health

  Scientists at Sanford Burnham Prebys and international collaborators have discovered a previously unknown rare genetic disease by identifying a mutation in the RPN1 gene. The study...

• Innate Immunity Gene Variants Linked to Significantly Earlier Breast Cancer Onset for BRCA1 Mutation Carriers

  Published: Apr 1, 2026

  Section: Medical News

  Preliminary research published in the Journal of Medical Genetics reveals that damaging variants in innate immunity genes, particularly those governing natural killer cells, correl...

• Genetics of Rapid Immune Response Linked to Accelerated Breast Cancer Onset in High-Risk BRCA1 Mutation Carriers

  Published: Apr 1, 2026

  Section: Health

  A study of Ashkenazi Jewish women has identified specific variants in innate immunity genes that significantly lower the age of breast cancer onset for those carrying the BRCA1 mut...

• New Expert Consensus Establishes Global Standards for Tumor Mutational Burden Testing to Enhance Immunotherapy Precision

  Published: Mar 26, 2026

  Section: Health

  A landmark consensus published in Cancer Biology & Medicine by the Yangtze River Delta Lung Cancer Cooperation Group provides a rigorous framework for standardizing Tumor Mutationa...