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  2. Exome sequencing - Wikipedia

    en.wikipedia.org/wiki/Exome_sequencing

    Exome sequencing workflow: part 1. Exome sequencing, also known as whole exome sequencing (WES), is a genomic technique for sequencing all of the protein-coding regions of genes in a genome (known as the exome). [1] It consists of two steps: the first step is to select only the subset of DNA that encodes proteins.

  3. GeneDx - Wikipedia

    en.wikipedia.org/wiki/GeneDx

    GeneDx currently offers tests for hundreds of rare diseases, as well as panels of genes and whole exome sequencing (20,000 gene) Mendelian disorders using massively-parallel DNA sequencing and deletion/duplication analysis of the associated gene(s).

  4. Helix (genomics company) - Wikipedia

    en.wikipedia.org/wiki/Helix_(genomics_company)

    Helix uses NGS to sequence a proprietary assay called Exome+, a version of Exome sequencing which according to the company provides 100 times more data than was previously available. [9] Exome+ includes all 22,000 protein-coding genes as well as additional regions known to be of interest. [ 10 ]

  5. Exome - Wikipedia

    en.wikipedia.org/wiki/Exome

    Whole-exome sequencing is a recent technology that has led to the discovery of various genetic disorders and increased the rate of diagnoses of patients with rare genetic disorders. Overall, whole-exome sequencing has allowed healthcare providers to diagnose 30–50% of patients who were thought to have rare Mendelian disorders.

  6. Personal genomics - Wikipedia

    en.wikipedia.org/wiki/Personal_genomics

    Personal genomics or consumer genetics is the branch of genomics concerned with the sequencing, analysis and interpretation of the genome of an individual. The genotyping stage employs different techniques, including single-nucleotide polymorphism (SNP) analysis chips (typically 0.02% of the genome), or partial or full genome sequencing.

  7. Whole genome sequencing - Wikipedia

    en.wikipedia.org/wiki/Whole_genome_sequencing

    [113] [114] As of 2015, whole genome and exome sequencing as a newborn screening tool were deliberated [115] and in 2021, further discussed. [ 116 ] In 2021, the NIH funded BabySeq2, an implementation study that expanded the BabySeq project, enrolling 500 infants from diverse families and track the effects of their genomic sequencing on their ...

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