ASHISH KUMAR SINGH

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Publications (5)

• Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing
  BMC Medical Genomics 2023 DOI: 10.1186/s12920-023-01562-3
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• Characterization of POLE c.1373A > T p.(Tyr458Phe), causing high cancer risk
  Molecular Genetics and Genomics 2023 DOI: 10.1007/s00438-023-02000-w
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• Detecting copy number variation in next generation sequencing data from diagnostic gene panels
  BMC Medical Genomics 2021 DOI: 10.1186/s12920-021-01059-x
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• Targeted sequencing of genes associated with the mismatch repair pathway in patients with endometrial cancer
  PLOS ONE 2020 DOI: 10.1371/journal.pone.0235613
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• Comprehensive mismatch repair gene panel identifies variants in patients with Lynch‐like syndrome
  Molecular Genetics & Genomic Medicine 2019 DOI: 10.1002/mgg3.850
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