Browsing NTNU Open by Author "Singh, Ashish Kumar"
Now showing items 1-6 of 6
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Comprehensive mismatch repair gene panel identifies variants in patients with Lynch-like syndrome
Xavier, Alexandre; Olsen, Maren Fridtjofsen; Lavik, Liss Ane; Johansen, Jostein; Singh, Ashish Kumar; Sjursen, Wenche; Scott, Rodney J.; Talseth-Palmer, Bente Anita (Journal article; Peer reviewed, 2019)AbstractBackground: Lynch‐like syndrome (LLS) represents around 50% of the patients fulfilling the Amsterdam Criteria II/revised Bethesda Guidelines, characterized by a strong family history of Lynch Syndrome (LS) ... -
Detecting copy number variation in next generation sequencing data from diagnostic gene panels
Singh, Ashish Kumar; Olsen, Maren Fridtjofsen; Lavik, Liss Ane; Vold, Trine; Drabløs, Finn; Sjursen, Wenche (Journal article; Peer reviewed, 2021)Background Detection of copy number variation (CNV) in genes associated with disease is important in genetic diagnostics, and next generation sequencing (NGS) technology provides data that can be used for CNV detection. ... -
Detecting copy number variation in next generation sequencing data from diagnostic gene panels
Singh, Ashish Kumar; Olsen, Maren Fridtjofsen; Lavik, Liss Ane; Vold, Trine; Drabløs, Finn; Sjursen, Wenche (Peer reviewed; Journal article, 2021)Background Detection of copy number variation (CNV) in genes associated with disease is important in genetic diagnostics, and next generation sequencing (NGS) technology provides data that can be used for CNV detection. ... -
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing
Singh, Ashish Kumar; Talseth-Palmer, Bente Anita; Xavier, Alexandre; Scott, Rodney J.; Drabløs, Finn Sverre; Sjursen, Wenche (Peer reviewed; Journal article, 2023)Background Hereditary genetic mutations causing predisposition to colorectal cancer are accountable for approximately 30% of all colorectal cancer cases. However, only a small fraction of these are high penetrant mutations ... -
Next Generation Sequencing based methods in genetic disease diagnostics
Singh, Ashish Kumar (Doctoral theses at NTNU 2023:222, Doctoral thesis, 2023)Background: Identification of a germline pathogenic variant that increases risk of getting diseases in a family is important for the clinical management of the family members. DNA sequencing is an important molecular ... -
Targeted sequencing of genes associated with the mismatch repair pathway in patients with endometrial cancer
Singh, Ashish Kumar; McPhillips, Mary; Talseth-Palmer, Bente; Lavik, Liss Ane; Xavier, Alexandre; Drabløs, Finn; Sjursen, Wenche (Peer reviewed; Journal article, 2020)Germline variants inactivating the mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2 cause Lynch syndrome that implies an increased cancer risk, where colon and endometrial cancer are the most frequent. Identification ...