WordNet

a way of doing something, especially a systematic way; implies an orderly logical arrangement (usually in steps)
the 4th letter of the Roman alphabet (同)d

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1. DNAによる親子鑑定 parentage testing using dna
2. 小頭症に対する臨床遺伝学的アプローチ microcephaly a clinical genetics approach
3. 嚢胞性線維症：臨床症状および診断 cystic fibrosis clinical manifestations and diagnosis
4. 多発性内分泌腫瘍2型の臨床症状および診断 clinical manifestations and diagnosis of multiple endocrine neoplasia type 2
5. ガラクトース血症：臨床的特徴および診断 galactosemia clinical features and diagnosis

New Genome-Wide Methods for Elucidation of Candidate Copy Number Variations (CNVs) Contributing to Alzheimer's Disease Heritability.

Szigeti K1.
Methods in molecular biology (Clifton, N.J.).Methods Mol Biol.2016;1303:315-26. doi: 10.1007/978-1-4939-2627-5_19.
The complexity of human genetic variation has been extended by the observation of abundant and widespread variation in the copy number of submicroscopic DNA segments. The discovery of this novel level of genome organization opened new possibilities concerning the genetic variation that may confer su
PMID 26235076

Pooled-DNA Sequencing for Elucidating New Genomic Risk Factors, Rare Variants Underlying Alzheimer's Disease.

Jin SC1, Benitez BA, Deming Y, Cruchaga C.
Methods in molecular biology (Clifton, N.J.).Methods Mol Biol.2016;1303:299-314. doi: 10.1007/978-1-4939-2627-5_18.
Analyses of genome-wide association studies (GWAS) for complex disorders usually identify common variants with a relatively small effect size that only explain a small proportion of phenotypic heritability. Several studies have suggested that a significant fraction of heritability may be explained b
PMID 26235075

Bertram L1.
Methods in molecular biology (Clifton, N.J.).Methods Mol Biol.2016;1303:281-97. doi: 10.1007/978-1-4939-2627-5_17.
For the first time in the history of human genetics research, it is now both technically feasible and economically affordable to screen individual genomes for novel disease-causing mutations at base-pair resolution using "next-generation sequencing" (NGS). One popular aim in many of today's NGS stud
PMID 26235074

Takeuchi Fumihiko,Sekizuka Tsuyoshi,Yamashita Akifumi [他],Ogasawara Yumiko,Mizuta Katsumi,Kuroda Makoto
Japanese Journal of Infectious Diseases 67(1), 62-65, 2014
… Next-generation DNA sequencing technologies have led to a new method of identifying the causative agents of infectious diseases. … First, DNA/RNA is extracted and extensively sequenced from a specimen that includes the pathogen, human tissue and commensal microorganisms. …
NAID 130003399236

Determination of copy number of short tandem repeat using NAD-dependent ligase and pyrosequencing-compatible method(GENETICS, MOLECULAR BIOLOGY, AND GENE ENGINEERING)

Lin Ming-Shu,Yao Ciou-Hao,Lu Cheng-Hung [他],Hou Shao-Yi
Journal of bioscience and bioengineering 116(5), 546-550, 2013-11
… A sensitive and pyrosequencing-compatible method for determining the copy number of the short tandem repeat (STR) is presented in this study. … When Escherichia coli ligase catalyzes the ligation of primer and probes complementary to the proper sites of the target DNA template, it converts nicotinamide adenine dinucleotide to adenosine mono-phosphate (AMP) and nicotinamide. …
NAID 110009685201

高嶋博
心身医学 53(10), 921-925, 2013-10-01
臨床神経遺伝学は,近年著しい発展を続けている.遺伝性神経疾患の原因探求の研究においても,脊髄小脳変性症,筋ジストロフィー,遺伝性ニューロパチー,遺伝性痙性対麻痺,ミトコンドリア病,家族性アルツハイマー病,パーキンソン病など,それぞれ少なくとも10以上,多いものは40以上の遺伝子座や原因遺伝子が同定されている.その進歩に伴い遺伝子診断の重要性がクローズアップされるが,一方では一つの臨床病型に対して, …
NAID 110009657690