Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Leslie G. Biesecker"'
Autor:
Katie L. Lewis, Alexis R Heidlebaugh, Leslie G. Biesecker, David Ng, Ilana M. Miller, Sandra Epps, William M. P. Klein, Paul K. J. Han, Kristen P Fishler, Barbara B. Biesecker, Charlotte L Hepler
Publikováno v:
Genet Med
PURPOSE: Racial minority populations are underrepresented in genomics research. This study enrolled African-descended individuals in a sequencing study and reported their characteristics. METHODS: We purposively recruited 467 individuals self-identif
Autor:
David E. Gray, Michael O. Dorschner, Matthew S. Lebo, Nikhil Wagle, Ellen A. Tsai, Avni Santani, Heidi L. Rehm, Sean McGee, Mahdi Sarmady, Andrew Dunford, Celine S. Hong, Levi A. Garraway, Kimberly Walker, Deborah A. Nickerson, Carrie Cibulskis, Joshua Sailsbery, David S. Hanna, Dan R. Robinson, Lucia A. Hindorff, Christian J. Buhay, Rashesh Sanghvi, Leslie G. Biesecker, Kevin M. Bowling, Ariella Sasson, Carolyn M. Hutter, Bradford C. Powell, Gregory M. Cooper, Christine Brennan, Donna M. Muzny, Mauricio O. Carneiro, Robert J. Lonigro
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
PURPOSE: As massively parallel sequencing is increasingly being used for clinical decision-making, it has become critical to understand parameters that affect sequencing quality and to establish methods for measuring and reporting clinical sequencing
Autor:
Kendall L. Umstead, Katie L. Lewis, Laura K Koehly, Leslie G. Biesecker, Barbara B. Biesecker, Gillian W. Hooker
Publikováno v:
Genetics in Medicine. 19:98-103
PURPOSE As clinical genome sequencing expand its reach, understanding how individuals engage with this process are of critical importance. In this study, we aimed to describe internal engagement and its correlates among a ClinSeq cohort of adults con
Autor:
Alison M. Elliott, Sarah Bowdin, Leslie G. Biesecker, Margaret P. Adam, Amy E. Roberts, Ian A. Glass, Fuki M. Hisama, John W. Belmont, Sharon E. Plon, Miriam G. Blitzer, Adel Gilbert, Gail E. Herman, Laird G. Jackson, Matthew A. Deardorff, Heidi L. Rehm, Alisha Wilkens, Cynthia C. Morton, Emma Bedoukian, Louanne Hudgins, Laurie A. Demmer, Cheryl Shuman, Christian R. Marshall, John J. Mulvihill, Christopher Carew, Mindy H. Li, Raymond H. Kim, Darrel Waggoner, D James Stavropoulos, Lisa C.A. D'Alessandro, Lucia A. Hindorff, David H. Ledbetter, A. Micheil Innes, Ronald D. Cohn, Nasim Monfared, Bruce R. Korf, Gail P. Jarvik, Hans T. Bjornsson, Livija Medne, Nancy B. Spinner, Barbara A. Bernhardt, Kathleen Valverde, Gerald L. Feldman, M. Stephen Meyn, Eriskay Liston, Ian D. Krantz
Publikováno v:
Genetics in Medicine. 18:1075-1084
The introduction of diagnostic clinical genome and exome sequencing (CGES) is changing the scope of practice for clinical geneticists. Many large institutions are making a significant investment in infrastructure and technology, allowing clinicians t
Autor:
Philip D. Connors, Samantha Caldwell, Barbara B. Biesecker, Leslie G. Biesecker, Martha F. Wright, Katie L. Lewis, Gillian W. Hooker, Travis C. Hyams
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
This study investigated how genome sequencing results affect health behaviors, affect, and communication. We report on 29 participants who received a sequence result in the ClinSeq study, a cohort of well-educated, postreproductive volunteers. A mixe
Autor:
Steven M. Holland, Richard O. Cannon, Forbes D. Porter, Wendy S. Rubinstein, David A. Bluemke, Mark H. Greene, Sara Chandros Hull, William A. Gahl, Christine Grady, Leslie G. Biesecker, David B. Resnik, Andrew J. Darnell, David Goldman, Kenneth H. Fischbeck, Howard Austin
Publikováno v:
The American Journal of Human Genetics. 98:435-441
Human genome and exome sequencing are powerful research tools that can generate secondary findings beyond the scope of the research. Most secondary genomic findings are of low importance, but some (for a current estimate of 1%–3% of individuals) co
Autor:
Katie L. Lewis, Paul K. J. Han, William L. Klein, Barbara B. Biesecker, Leslie G. Biesecker, Martha Frances Wright, Tyler Fisher
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
The scope of uncertainty in genome sequence information has no rival in health-care delivery. We present data from adults participating in a National Institutes of Health study using this technology, in which perceptions of uncertainty are hypothesiz
Autor:
Tyler Fisher, Barbara B. Biesecker, Katie L. Lewis, Toby Emanuel, Leslie G. Biesecker, Martha Frances Wright, Gillian W. Hooker
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
The aim of this study was to explore the implications of sequencing information and stated preferences for return of results among research participants. Six focus groups were held with 39 ClinSeq participants. The groups included participants who ha
Autor:
Ze Cheng, Santhosh Girirajan, Tiffany H. Vu, Raphael Bernier, Kenneth M. K. Mark, Evan E. Eichler, Megan Y. Dennis, Carl Baker, Catarina D. Campbell, Maika Malig, Bradley P. Coe, Can Alkan, Leslie G. Biesecker
Publikováno v:
The American Journal of Human Genetics. 92(2):221-237
Rare copy-number variants (CNVs) have been implicated in autism and intellectual disability. These variants are large and affect many genes but lack clear specificity toward autism as opposed to developmental-delay phenotypes. We exploited the repeat
Autor:
Jonathan S. Berg, Aleksandar Milosavljevic, Carrie Horton, Ragan Hart, Michael O. Dorschner, Michelle D. Amaral, Ronak Y. Patel, Matthew S. Lebo, Carolyn Sue Richards, Greg M. Cooper, Joseph Salama, Gail P. Jarvik, Kevin M. Bowling, Jeffrey Ou, Sharon E. Plon, Matthew C. Dulik, Leslie G. Biesecker, Arezou A. Ghazani, Natasha T. Strande, Jennifer J. Johnston, Laura M. Amendola, Rajarshi Ghosh, Robert C. Green, Yassmine Akkari, Yaping Yang, Laura K. Conlin, Sawona Biswas, Heidi L. Rehm, Michael C. Leo, Heather M. McLaughlin, Christine Pak, Sumit Punj
Publikováno v:
The American Journal of Human Genetics. 99(1)
Evaluating the pathogenicity of a variant is challenging given the plethora of types of genetic evidence that laboratories consider. Deciding how to weigh each type of evidence is difficult, and standards have been needed. In 2015, the American Colle