Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Maitreya Das"'
Autor:
Matthew Jensen, Anastasia Tyryshkina, Lucilla Pizzo, Corrine Smolen, Maitreya Das, Emily Huber, Arjun Krishnan, Santhosh Girirajan
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-21 (2021)
Abstract Background Recent studies have suggested that individual variants do not sufficiently explain the variable expressivity of phenotypes observed in complex disorders. For example, the 16p12.1 deletion is associated with developmental delay and
Externí odkaz:
https://doaj.org/article/d9f8a8092de1449db482756910d62953
Autor:
Maitreya Das, Santhosh Girirajan
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-4 (2021)
Abstract High-throughput sequencing of large affected cohorts have helped uncover a plethora of risk genes for complex neurodevelopmental disorders. However, untangling complex disease etiology also involves understanding the functional consequences
Externí odkaz:
https://doaj.org/article/474f70d524d9475a8eba6526237a8f45
Publikováno v:
Genome Research. 33:479-495
High-throughput methods such as RNA-seq, ChIP-seq, and ATAC-seq have well-established guidelines, commercial kits, and analysis pipelines that enable consistency and wider adoption for understanding genome function and regulation. STARR-seq, a popula
Autor:
Arjun Krishnan, Santhosh Girirajan, Lucilla Pizzo, Maitreya Das, Anastasia Tyryshkina, Emily Huber, Matthew Jensen, Corrine Smolen
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-21 (2021)
Genome Medicine
Genome Medicine
Background Recent studies have suggested that individual variants do not sufficiently explain the variable expressivity of phenotypes observed in complex disorders. For example, the 16p12.1 deletion is associated with developmental delay and neuropsy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc6aab30d07c6621a28e93e9a45b42aa
https://doi.org/10.1101/2021.03.06.434203
https://doi.org/10.1101/2021.03.06.434203
Autor:
Chiranjib Chakraboty, V. Balaji, M. Swati, C. George Priya Doss, Richa Vasan, B. Rajith, R. Magesh, Maitreya Das, B. Gowthami, Sneha Menon, Jasmine Paul, Manjari Trivedi
Publikováno v:
Molecular bioSystems. 10(3)
A major challenge remaining in drug design efforts towards protein kinase is due to the development of drug resistance initiated by the missense mutations in the kinase catalytic domain. Gain or loss of function mutations in the REarranged during Tra