Whole genome sequencing of canine family trios to identify rare alleles for Mendelian diseases.

Makelainen S.; Andersson G.; Bergstrom T. F.

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Whole genome sequencing of canine family trios to identify rare alleles for Mendelian diseases.

机译：犬家族的全基因组测序Trios鉴定孟德尔疾病的罕见等位基因。

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来源
《Journal of Animal Science》 |2016年第4期|共2页
作者
Makelainen S.; Andersson G.; Bergstrom T. F.;
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作者单位

Swedish Univ Agr Sci Dept Anim Breeding &

Genet Uppsala Sweden;

Swedish Univ Agr Sci Dept Anim Breeding &

Genet Uppsala Sweden;

Swedish Univ Agr Sci Dept Anim Breeding &

Genet Uppsala Sweden;

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原文格式 PDF
正文语种 eng
中图分类动物学;
关键词
dog; monogenic disease; nextgeneration sequencing;

机译：狗;单一的疾病;下一代测序;

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专利

1. Whole genome sequencing of canine family trios to identify rare alleles for Mendelian diseases. [J] . Makelainen S., Andersson G., Bergstrom T. F. Journal of Animal Science . 2016,第Suppla4期

机译：犬家族的全基因组测序Trios鉴定孟德尔疾病的罕见等位基因。
2. Exome sequencing in families with severe mental illness identifies novel and rare variants in genes implicated in Mendelian neuropsychiatric syndromes [J] . Suhas Ganesh, Husayn Ahmed P., Ravi K. Nadella, Psychiatry and clinical neurosciences . 2019,第1a2期

机译：具有严重精神疾病的家庭中的exome测序识别涉及孟德尔神经精神学综合征的基因的新颖和罕见的变体
3. Whole-Genome Sequencing of a Family with Hereditary Pulmonary Alveolar Proteinosis Identifies a Rare Structural Variant Involving CSF2RA/CRLF2/IL3RA Gene Disruption [J] . Chih-Yung Chiu, Shih-Chi Su, Wen-Lang Fan, Scientific reports. . 2017,第1期

机译：具有遗传性肺肺泡蛋白病变的家族的全基因组测序识别罕见的结构变体，涉及CSF2RA / CRLF2 / IL3RA基因破坏
4. Read-mapping using personalized diploid reference genome for RNA sequencing data reduced bias for detecting allele-specific expression [C] . Yuan Shuai, Qin Zhaohui 2012 IEEE International Conference on Bioinformatics and Biomedicine Workshops. . 2012

机译：使用个性化二倍体参考基因组进行RNA测序数据的读图减少了检测等位基因特异性表达的偏倚
5. Identifying allele-specific DNA methylation in mammalian genomes. [D] . Fang, Fang. 2012

机译：鉴定哺乳动物基因组中的等位基因特异性DNA甲基化。
6. Whole-Genome Sequencing of a Canine Family Trio Reveals a FAM83G Variant Associated with Hereditary Footpad Hyperkeratosis [O] . Shumaila Sayyab, Agnese Viluma, Kerstin Bergvall, 2016

机译：犬科三重奏的全基因组测序揭示了与遗传性足垫角化过度相关的FAM83G变异体
7. Whole-Genome Sequencing of a Canine Family Trio Reveals a FAM83G Variant Associated with Hereditary Footpad Hyperkeratosis [O] . Sayyab Shumaila, Viluma Agnese, Bergvall Kerstin, 2016

机译：犬科三重奏的全基因组测序揭示了与遗传性足垫角化过度相关的FAM83G变异体

Whole genome sequencing of canine family trios to identify rare alleles for Mendelian diseases.

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