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Since 2007, new technologies have allowed unprecedented advances in human genetics. The HGSC pioneered whole exome capture methods and published the first diploid sequence of a human, James Watson. Next, we demonstrated the utility of whole genome sequencing for genetic disease discovery and for guiding effective clinical treatments. In 2011, we began deploying these methods into routine clinical practice and now provide full gene sequencing to hundreds of individual patients each month. The HGSC is also part of the national program for systematic discovery of the cause of human single genome defects and has an active bioinformatics program, with research projects involving biologists and computer scientists. To advance the use of genomics in adult clinics the HGSC has developed methods for screening for cardiovascular genetic risk and has recently joined the national All of Us consortium. Problems under study focus on developing tools for generating, manipulating and analyzing genome data.
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论文共 131 篇作者统计合作学者相似作者
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Ronit Marom,Bo Zhang,Megan E. Washington,I-Wen Song,Lindsay C. Burrage, Vittoria C. Rossi, Ava S. Berrier,Anika Lindsey, Jacob Lesinski,Michael L. Nonet,Jian Chen,Dustin Baldridge,
PLoS geneticsno. 11 (2023): e1011005-e1011005
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S. Behera,J. R. Belyeu,X. Chen,L. F. Paulin, N.Q.H. Nguyen, E. Newman,M. Mahmoud,V. K. Menon, Q. Qi, P. Joshi, S. Marcovina,M. Rossi,
bioRxiv : the preprint server for biology (2023)
bioRxiv (Cold Spring Harbor Laboratory) (2023)
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