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332 results
  1. What are whole exome sequencing and whole genome sequencing?: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/understanding/testing/sequencing
    ... used to test for genetic disorders. Two methods, whole exome sequencing and whole genome sequencing, are increasingly used in ... the method of sequencing them is known as whole exome sequencing. This method allows variations in the protein-coding ...
  2. Genetics of Breast and Gynecologic Cancers (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65767
    ... with established risk factors.[ 48 ] Whole-Genome and Whole-Exome Sequencing In addition to GWAS interrogating common genetic variants, sequencing-based studies involving whole-genome or whole-exome sequencing [ 49 ] are also identifying genes associated with breast ...
  3. What are the different types of genetic tests?: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/understanding/testing/types
    ... there are hundreds of genetic causes of epilepsy.) Whole exome sequencing/whole genome sequencing : These tests analyze the bulk ... of genetic tests . GeneReviews compares whole genome sequencing, whole exome sequencing, and the sequencing of a selection of individual ...
  4. GRIN1-Related Neurodevelopmental Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK542807
    ... E, Chung WK, Bale S. Clinical application of whole-exome sequencing across clinical indications. Genet Med. 2016; 18 :696– ... White SM. Diagnostic impact and cost-effectiveness of whole-exome sequencing for ambulant children with suspected monogenic conditions. JAMA ...
  5. Excluded Studies - Interventions Targeting Sensory Challenges in Children With Autism Spectrum Disorder—An Update - ... 
    https://www.ncbi.nlm.nih.gov/books/NBK448045
    ... NH, Nato AQ, Jr., Bernier R, et al. Whole exome sequencing in extended families with autism spectrum disorder implicates ... missense variations and risk of autism spectrum disorder: whole-exome sequencing in two families with affected siblings and a ...
  6. What are secondary findings from genetic testing?: MedlinePlus Genetics 
    https://medlineplus.gov/.../understanding/testing/secondaryfindings
    ... nucleotides), called a genome. These tests are called whole exome sequencing and whole genome sequencing , respectively. Many more genetic ... setting differ from clinical genetic testing? What are whole exome sequencing and whole genome sequencing? What are secondary findings ...
  7. Nonsyndromic Retinitis Pigmentosa Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1417
    ... Jan 25. Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa. [Mol ... Med. 2020] Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa. Dan ...
  8. Appendix Reference List - Genetic Testing for Developmental Disabilities, Intellectual Disability, and Autism Spectrum .... 
    https://www.ncbi.nlm.nih.gov/books/NBK310453
    ... handbook/genomicresearch/sequencing . 17. Medical genetics test details: whole exome sequencing. Houston (TX): Baylor College of Medicine; [Accessed 2014 ...
  9. Treacher Collins Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1532
    ... 4):333-8. TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing ... Rare Dis. 2019] TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing ...
  10. Familial Lipoprotein Lipase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1308
    ... Reveals Two Novel <i>LPL</i> Mutations by Whole-Exome Sequencing. [Front Genet. 2020] Analysis of a Chinese Pedigree ... Reveals Two Novel <i>LPL</i> Mutations by Whole-Exome Sequencing. Liu Y, Lan Z, Zhao F, Zhang S, ...
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