换一批
换一批
作者：
Egor,Dolzhenko [1]
;
Ben,Weisburd [2]
;
Kristina,Ibañez [3]
;
Indhu-Shree,Rajan-Babu [4]
;
Christine,Anyansi [5]
;
Mark F,Bennett [6]
;
Kimberley,Billingsley [1]
;
Ashley,Carroll [7]
;
Samuel,Clamons [8]
;
Matt C,Danzi [9]
;
Viraj,Deshpande [10]
;
Jinhui,Ding [11]
;
Sarah,Fazal [1]
;
Andreas,Halman [1]
;
Bharati,Jadhav [12]
;
Yunjiang,Qiu [1]
;
Phillip A,Richmond [13]
;
Christopher T,Saunders [12]
;
Konrad,Scheffler [14]
;
Joke J F A,van Vugt [15]
;
Ramona R A J,Zwamborn [16]
;
Genomics England Research Consortium [1]
;
Samuel S,Chong [17]
;
Jan M,Friedman [1]
;
Arianna,Tucci [1]
;
Heidi L,Rehm [18]
;
Michael A,Eberle [18]
作者单位：
Illumina Inc., San Diego, CA, 92122, USA.
[1]
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, USA.
[2]
Center for Genomic Medicine, Massachusetts General Hospital, Boston, USA.
[3]
William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, UK.
[4]
Department of Medical Genetics, University of British Columbia and Children's & Women's Hospital, Vancouver, BC, V6H3N1, Canada.
[5]
Department of Medical and Molecular Genetics, King's College London, Strand, London, WC2R 2LS, UK.
[6]
Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.
[7]
Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia.
[8]
Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, 3084, Australia.
[9]
Center for Alzheimer's and Related Dementias, National Institute on Aging, Bethesda, MD, USA.
[10]
Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
[11]
Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, 33136, USA.
[12]
Computational Biology Group, Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD, 20892, USA.
[13]
Peter MacCallum Cancer Centre, Melbourne, VIC, 3000, Australia.
[14]
Sir Peter MacCallum Department of Oncology, The University of Melbourne, Parkville, VIC, 3010, Australia.
[15]
Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.
[16]
BC Children's Hospital Research Institute, Vancouver, BC, V5Z 4H4, Canada.
[17]
Department of Neurology, University Medical Center Utrecht Brain Center, Utrecht University, Utrecht, The Netherlands.
[18]
Department of Pediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, 119228, Singapore.
[19]
Department of Obstetrics and Gynecology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, 119228, Singapore.
[20]
Department of Laboratory Medicine, National University Hospital, Singapore, 119074, Singapore.
[21]
Illumina Inc., San Diego, CA, 92122, USA. eberle@gmail.com.
[22]
主题词
等位基因(Alleles);肌萎缩侧索硬化(Amyotrophic Lateral Sclerosis);脆性X智力低下蛋白质(Fragile X Mental Retardation Protein);单倍型(Haplotypes);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing);人类(Humans);串联重复序列(Tandem Repeat Sequences)
DOI
10.1186/s13073-022-01085-z
PMID
35948990
发布时间
2023-01-27
- 浏览0
Genome medicine
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文
