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Variant prioritization
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publication
Identification of lung cancer histology-specific variants applying Bayesian framework variant prioritization approaches within the TRICL and ILCCO consortia
2015 |
1. lékařská fakulta
publication
Exome sequencing for identification of disease genes for rare syndromes. Experiences from Hamburg
2014 |
2. lékařská fakulta
publication
Identification of Familial Hodgkin Lymphoma Predisposing Genes Using Whole Genome Sequencing
2020 |
Lékařská fakulta v Plzni
publication
Whole-Exome Sequencing Identifies a Novel Germline Variant in PTK7 Gene in Familial Colorectal Cancer
2022 |
Lékařská fakulta v Plzni
publication
Whole exome sequencing identifies novel germline variants of SLC15A4 gene as potentially cancer predisposing in familial colorectal cancer
2022 |
Lékařská fakulta v Plzni
publication
A Novel Low-Risk Germline Variant in the SH2 Domain of the SRC Gene Affects Multiple Pathways in Familial Colorectal Cancer
2021 |
Lékařská fakulta v Plzni
publication
Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders
2024 |
2. lékařská fakulta
publication
Prot2HG: a database of protein domains mapped to the human genome
2020 |
2. lékařská fakulta
publication
Whole Genome Sequencing Prioritizes CHEK2, EWSR1, and TIAM1 as Possible Predisposition Genes for Familial Non-Medullary Thyroid Cancer
2021 |
Lékařská fakulta v Plzni