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Journal article

Clinical sequencing: From raw data to diagnosis with lifetime value.

  • Caspar SM Center for Cardiovascular Genetics and Gene Diagnostics, Foundation for People with Rare Diseases, Schlieren-Zurich, Switzerland.
  • Dubacher N Center for Cardiovascular Genetics and Gene Diagnostics, Foundation for People with Rare Diseases, Schlieren-Zurich, Switzerland.
  • Kopps AM Center for Cardiovascular Genetics and Gene Diagnostics, Foundation for People with Rare Diseases, Schlieren-Zurich, Switzerland.
  • Meienberg J Center for Cardiovascular Genetics and Gene Diagnostics, Foundation for People with Rare Diseases, Schlieren-Zurich, Switzerland.
  • Henggeler C Center for Cardiovascular Genetics and Gene Diagnostics, Foundation for People with Rare Diseases, Schlieren-Zurich, Switzerland.
  • Matyas G Center for Cardiovascular Genetics and Gene Diagnostics, Foundation for People with Rare Diseases, Schlieren-Zurich, Switzerland.
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  • 2017-12-06
Published in:
  • Clinical genetics. - 2018
WES
WGS
genetic counseling
genetic testing
long-read sequencing
next-generation sequencing
pharmacogenetics
short-read sequencing
targeted gene panels
Genetic Association Studies
Genetic Counseling
Genetic Predisposition to Disease
Genetic Variation
Genome, Human
Genome-Wide Association Study
Genomics
High-Throughput Nucleotide Sequencing
Humans
Insurance, Health, Reimbursement
Sequence Analysis, DNA
English High-throughput sequencing (HTS) has revolutionized genetics by enabling the detection of sequence variants at hitherto unprecedented large scale. Despite these advances, however, there are still remaining challenges in the complete coverage of targeted regions (genes, exome or genome) as well as in HTS data analysis and interpretation. Moreover, it is easy to get overwhelmed by the plethora of available methods and tools for HTS. Here, we review the step-by-step process from the generation of sequence data to molecular diagnosis of Mendelian diseases. Highlighting advantages and limitations, this review addresses the current state of (1) HTS technologies, considering targeted, whole-exome, and whole-genome sequencing on short- and long-read platforms; (2) read alignment, variant calling and interpretation; as well as (3) regulatory issues related to genetic counseling, reimbursement, and data storage.
Language
  • English
Open access status
hybrid
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Persistent URL
https://sonar.ch/global/documents/235808
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