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Human Genetics

Volume 138, February 2019, Issue 2, Pages 109-210

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1. Translating cancer genomics into precision medicine with artificial intelligence: applications, challenges and future perspectives

Tác giả

Jia Xu, Pengwei Yang, Shang Xue, Bhuvan Sharma, Marta Sanchez-Martin.

2. New insights into the genetics of spermatogenic failure: a review of the literature

Tác giả

Rossella Cannarella, Rosita A. Condorelli, Ylenia Duca, Sandro La Vignera.

3. Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus

Tác giả

Jonas Carlsson Almlöf, Sara Nystedt, Dag Leonard, Maija-Leena Eloranta.

4. LncRNA ZBTB40-IT1 modulated by osteoporosis GWAS risk SNPs suppresses osteogenesis

Tác giả

Bing Mei, Ya Wang, Weiyuan Ye, Han Huang, Qian Zhou, Yuanyuan Chen.

5. Integrative genomic analysis predicts novel functional enhancer-SNPs for bone mineral density

Tác giả

Chuan Qiu, Hui Shen, Xiaoying Fu, Chao Xu, Qing Tian, Hongwen Deng.

6. Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy

Tác giả

Marco Fichera, Pinella Failla, Lucia Saccuzzo, Martina Miceli.

7. Leveraging linkage evidence to identify low-frequency and rare variants on 16p13 associated with blood pressure using TOPMed whole genome sequencing data

Tác giả

Karen Y. He, Xiaoyin Li, Tanika N. Kelly, Jingjing Liang, Brian E. Cade.