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2024
article
OpenAlex
V. Salomaa, S.S. Rich, Elizabeth L. Appelbaum, Ryan M. Layer et autres
A key goal of whole-genome sequencing for studies of human genetics is to interrogate all forms of variation, including single-nucleotide variants, small insertion or deletion (indel) variants and structural variants. However, tools and resources for the study of structural variants have lagged …
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2021
article
OpenAlex
S.M. Gaynor, Sun-Yni Lee, J. Lee, L.R. Yanek et autres
Whole-genome sequencing (WGS) can improve assessment of low-frequency and rare variants, particularly in non-European populations that have been underrepresented in existing genomic studies. The genetic determinants of C-reactive protein (CRP), a biomarker of chronic inflammation, have been extensively studied, with existing genome-wide …
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2016
article
OpenAlex
A. K. Srivastava, Yuanyuan Wang, Raymond Y. Huang, CJ SKINNER et autres
ObjectivesFrom the first description by Leo Kanner [1], autism has been an enigmatic neurobehavioral phenomenon.The new genetic/genomic technologies of the past decade have not been as productive as originally anticipated in unveiling the mysteries of autism.The specific etiology of the majority of …
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