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Discovering the Cause and Consequence
of Genomic Variation in Disease
HomeJason Fairchild2024-09-06T15:41:50-04:00
The Talkowski Lab is focused on understanding the genetic etiology of complex developmental and neuropsychiatric disorders. Collectively, our efforts revolve around a cycle that traverses from discovery of genomic variation across global populations to disease association, mechanistic modeling, and translation to diagnostic interpretation in the emerging era of genomic medicine.
News & Updates
Laura Smith2024-09-06T14:37:13-04:00
A structural variant catalog for All of Us
Laura Smith2024-09-06T14:37:13-04:00July 6th, 2024|
Steph Hao2023-05-10T15:19:29-04:00
Our work on non-invasive prenatal sequencing using cell-free DNA at the AGBT Conference
Steph Hao2023-05-10T15:19:29-04:00May 10th, 2023|
Steph Hao2023-05-10T15:19:41-04:00
Non-invasive exome sequencing to improve prenatal diagnostics presented at the ACMG Annual Meeting
Steph Hao2023-05-10T15:19:41-04:00April 19th, 2023|
Recent Publications
Laura Smith2024-04-02T14:13:55-04:00
Enhancing the possibilities of prenatal genetic testing through non-invasive fetal sequencing (NIFS)
Laura Smith2024-04-02T14:13:55-04:00November 22nd, 2023|
talkowski2023-08-29T07:50:11-04:00
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies
talkowski2023-08-29T07:50:11-04:00August 16th, 2023|
Steph Hao2023-05-10T15:47:55-04:00
Convergent coexpression of autism-associated genes suggests some novel risk genes may not be detectable in large-scale genetic studies
Steph Hao2023-05-10T15:47:55-04:00May 17th, 2023|
Talkowski Lab Collaborations:
