Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Brett J Kennedy"'
Autor:
Zev N Kronenberg, Edward J Osborne, Kelsey R Cone, Brett J Kennedy, Eric T Domyan, Michael D Shapiro, Nels C Elde, Mark Yandell
Publikováno v:
PLoS Computational Biology, Vol 11, Iss 12, p e1004572 (2015)
Existing methods for identifying structural variants (SVs) from short read datasets are inaccurate. This complicates disease-gene identification and efforts to understand the consequences of genetic variation. In response, we have created Wham (Whole
Externí odkaz:
https://doaj.org/article/4f66e3e1f66a4e89a1b3cf148d774820
Autor:
Dustin Nash, Cammon B Arrington, Brett J Kennedy, Mark Yandell, Wilfred Wu, Wenying Zhang, Stephanie Ware, Lynn B Jorde, Peter J Gruber, H Joseph Yost, Neil E Bowles, Steven B Bleyl
Publikováno v:
PLoS ONE, Vol 10, Iss 6, p e0131514 (2015)
Most isolated congenital heart defects are thought to be sporadic and are often ascribed to multifactorial mechanisms with poorly understood genetics. Total Anomalous Pulmonary Venous Return (TAPVR) occurs in 1 in 15,000 live-born infants and occurs
Externí odkaz:
https://doaj.org/article/5d296e46b76342a9aa6f37b0d2e1d6c3
Autor:
Shannon Hateley, Angelica Lopez-Izquierdo, Chuanchau J. Jou, Scott Cho, Joshua G. Schraiber, Shiya Song, Colin T. Maguire, Natalia Torres, Michael Riedel, Neil E. Bowles, Cammon B. Arrington, Brett J. Kennedy, Susan P. Etheridge, Shuping Lai, Chase Pribble, Lindsay Meyers, Derek Lundahl, Jake Byrnes, Julie M. Granka, Christopher A. Kauffman, Gordon Lemmon, Steven Boyden, W. Scott Watkins, Mary Anne Karren, Stacey Knight, J. Brent Muhlestein, John F. Carlquist, Jeffrey L. Anderson, Kenneth G. Chahine, Khushi U. Shah, Catherine A. Ball, Ivor J. Benjamin, Mark Yandell, Martin Tristani-Firouzi
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-10 (2021)
Many rare high-impact variants have been associated with disease, but the origins and functional impact are not always explored. Here, the authors trace the ancestry of a rare high impact atrial fibrillation allele in KCNQ1, and use iPSC-derived card
Externí odkaz:
https://doaj.org/article/fc7dba9c47974f5aa229e04e2b3a9d14