Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population | Zendy

Alastair J. Martin | Zendy; Karen E. Wain | Zendy; Matthew T. Oetjens | Zendy; Kasia Tolwinski | Zendy; Emily Palen | Zendy; Abby E. Hare-Harris | Zendy; Lukas Habegger | Zendy; Evan K. Maxwell | Zendy; Jeffrey G. Reid | Zendy; Lauren K. Walsh | Zendy; Scott M. Myers | Zendy; David H. Ledbetter | Zendy

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Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population

Author(s) -

Alastair J. Martin,

Karen E. Wain,

Matthew T. Oetjens,

Kasia Tolwinski,

Emily Palen,

Abby E. Hare-Harris,

Lukas Habegger,

Evan K. Maxwell,

Jeffrey G. Reid,

Lauren K. Walsh,

Scott M. Myers,

David H. Ledbetter

Publication year - 2020

Publication title -

jama psychiatry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 7.531

H-Index - 365

eISSN - 2168-6238

pISSN - 2168-622X

DOI - 10.1001/jamapsychiatry.2020.2159

Subject(s) - copy number variation , identification (biology) , population , medicine , psychiatry , genetics , psychology , biology , genome , environmental health , gene , botany

Population screening for medically relevant genomic variants that cause diseases such as hereditary cancer and cardiovascular disorders is increasing to facilitate early disease detection or prevention. Neuropsychiatric disorders (NPDs) are common, complex disorders with clear genetic causes; yet, access to genetic diagnosis is limited. We explored whether inclusion of NPD in population-based genomic screening programs is warranted by assessing 3 key factors: prevalence, penetrance, and personal utility.

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