Genetic Mapping [0.03%]
遗传图谱
Jonathan L Haines
Jonathan L Haines
Joshua L Deignan,Wayne W Grody
Joshua L Deignan
This unit describes a recommended approach to identifying causal genetic variants in an individual suspected of having cystic fibrosis. An introduction to the genetics and clinical presentation of cystic fibrosis is initially presented, fol...
Thomas W Prior,Narasimhan Nagan
Thomas W Prior
Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease and the most common genetic cause of infant mortality, affecting ∼1 in 10,000 live births. The disease is characterized by progressive symmetrical muscle wea...
Mariusz Butkiewicz,William S Bush
Mariusz Butkiewicz
This unit describes the concepts and practical techniques for annotating genomic variants in the human genome to estimate their functional significance. With the rapid increase of available whole exome and whole genome sequencing informatio...
Efficient CRISPR/Cas9-Based Genome Engineering in Human Pluripotent Stem Cells [0.03%]
有效的人类多能干细胞 crispr/cas 基因组工程技术
Cody Kime,Mohammad A Mandegar,Deepak Srivastava et al.
Cody Kime et al.
Human pluripotent stem cells (hPS cells) are rapidly emerging as a powerful tool for biomedical discovery. The advent of human induced pluripotent stem cells (hiPS cells) with human embryonic stem (hES)-cell-like properties has led to hPS c...
GONAD: A Novel CRISPR/Cas9 Genome Editing Method that Does Not Require Ex Vivo Handling of Embryos [0.03%]
一种新颖的CRISPR/Cas9基因组编辑方法——无需体外胚胎处理的生殖细胞敲除技术(GONAD)
Channabasavaiah B Gurumurthy,Gou Takahashi,Kenta Wada et al.
Channabasavaiah B Gurumurthy et al.
Transgenic technologies used for creating a desired genomic change in animals involve three critical steps: isolation of fertilized eggs, microinjection of transgenic DNA into them and their subsequent transfer to recipient females. These e...
Murat Bastepe,Winnie Xin
Murat Bastepe
Huntington disease (HD) is caused by expansion of a CAG trinucleotide repeat in the first exon of the Huntingtin (HTT) gene. Molecular testing of Huntington disease for diagnostic confirmation and disease prediction requires detection of th...
Joel B Krier,Robert C Green
Joel B Krier
Genomic sequencing is becoming accurate, fast, and increasingly inexpensive, and is rapidly being incorporated into clinical practice. Incidental or secondary findings, which can occur in large numbers from genomic sequencing, are a potenti...
Interpreting de novo Variation in Human Disease Using denovolyzeR [0.03%]
利用denovolyzeR解释从头变异在人类疾病中的作用
James S Ware,Kaitlin E Samocha,Jason Homsy et al.
James S Ware et al.
Spontaneously arising (de novo) genetic variants are important in human disease, yet every individual carries many such variants, with a median of 1 de novo variant affecting the protein-coding portion of the genome. A recently described mu...
Chemically Defined Culture and Cardiomyocyte Differentiation of Human Pluripotent Stem Cells [0.03%]
无添加物的人多能干细胞培养及其心肌细胞分化
Paul W Burridge,Alexandra Holmström,Joseph C Wu
Paul W Burridge
Since the first discovery that human pluripotent stem cells (hPS cells) can differentiate to cardiomyocytes, efforts have been made to optimize the conditions under which this process occurs. One of the most effective methodologies to optim...