Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population

Pugh Jennifer; Khan Sikandar G.; Tamura Deborah; Goldstein Alisa M.; Landi Maria Teresa; DiGiovanna John J.; Kraemer Kenneth H.

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Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population

机译：使用大数据来估算美国人口缺陷DNA修复变种的患病率

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IMPORTANCE Wide use of genomic sequencing to diagnose disease has raised concern about the extent of genotype-phenotype correlations.

机译：重要性广泛使用基因组测序诊断疾病的关注提出了基因型 - 表型相关的程度。

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《JAMA dermatology》 |2019年第1期|共7页
作者
Pugh Jennifer; Khan Sikandar G.; Tamura Deborah; Goldstein Alisa M.; Landi Maria Teresa; DiGiovanna John J.; Kraemer Kenneth H.;
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作者单位

NCI Lab Canc Biol &

Genet Ctr Canc Res Bldg 37 Room 4002 Mail Stop Code 4258 Bethesda MD 20892;

NCI Lab Canc Biol &

Genet Ctr Canc Res Bldg 37 Room 4002 Mail Stop Code 4258 Bethesda MD 20892;

NCI Lab Canc Biol &

Genet Ctr Canc Res Bldg 37 Room 4002 Mail Stop Code 4258 Bethesda MD 20892;

NCI Human Genet Program Div Canc Epidemiol &

Genet Bethesda MD 20892 USA;

NCI Human Genet Program Div Canc Epidemiol &

Genet Bethesda MD 20892 USA;

NCI Lab Canc Biol &

Genet Ctr Canc Res Bldg 37 Room 4002 Mail Stop Code 4258 Bethesda MD 20892;

NCI Lab Canc Biol &

Genet Ctr Canc Res Bldg 37 Room 4002 Mail Stop Code 4258 Bethesda MD 20892;

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原文格式 PDF
正文语种 eng
中图分类皮肤病学与性病学;
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专利

1. Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population [J] . Pugh Jennifer, Khan Sikandar G., Tamura Deborah, JAMA dermatology . 2019,第1期

机译：使用大数据来估算美国人口缺陷DNA修复变种的患病率
2. Defective repair capacity of variant proteins of the DNA glycosylase NTHL1 for 5-hydroxyuracil, an oxidation product of cytosine [J] . Shinmura Kazuya, Kato Hisami, Kawanishi Yuichi, Free Radical Biology and Medicine: The Official Journal of the Oxygen Society . 2019,第期

机译：DNA糖基糖基酶NTHL1的变体蛋白的缺陷修复能力为5-羟基尿嘧啶，胞嘧啶氧化产物
3. MonoSeq Variant Caller Reveals Novel Mononucleotide Run Indel Mutations in Tumors with Defective DNA Mismatch Repair [J] . Walker Christopher J., Miranda Mario A., OHern Matthew J., Human mutation . 2016,第10期

机译：MonoSeq变异调用者揭示了具有缺陷的DNA不匹配修复的新型单核苷酸运行Indel突变。
4. Developing National Prevalence Estimates From the 1995 Food Security Supplement to the Current Population Survey [C] . William L. (Chris) Hamilton Food Security Measurement and Research Conference . 2001

机译：从1995年粮食安全补充到当前人口调查中的国家流行估计
5. Evaluation of the accuracy of quantitative models in predicting Lynch syndrome (hereditary nonpolyposis colorectal cancer with defective DNA mismatch repair) mutations in a population-based sample of early-onset colorectal cancer patients [D] . Carpiniello, Lauren 2007

机译：在以人群为基础的早发性大肠癌患者样本中预测定量模型预测Lynch综合征（遗传性非息肉病性大肠直肠癌，DNA失配修复缺陷）的准确性
6. Prevalence and Molecular Characterization of Defective DNA Mismatch Repair in Small-bowel Carcinoma in a Japanese Hospital-based Population [O] . Tetsuya Ito, Hideyuki Ishida, Okihide Suzuki, 2020

机译：日本医院人口小肠癌中缺陷DNA错配修复的患病率及分子特征
7. Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population [O] . Jennifer Pugh, Sikandar G. Khan, Deborah Tamura, 2019

机译：使用大数据来估算美国缺陷DNA修复变种的缺陷率

Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population

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