Whole exome sequencing of wild-derived inbred strains of mice improves power to link phenotype and genotype.
Whole exome sequencing of wild-derived inbred strains of mice improves power to link phenotype and genotype.
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DOI：
10.1007/s00335-017-9704-9
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发表时间：
2017-10
期刊：
影响因子：
--
通讯作者：
Dean MD
中科院分区：
文献类型：
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作者：
Chang PL;Kopania E;Keeble S;Sarver BAJ;Larson E;Orth A;Belkhir K;Boursot P;Bonhomme F;Good JM;Dean MD
家鼠是剖析表型变异的遗传基础的有力模型，并作为研究人类疾病的模型。尽管有大量的发现，大多数经典的实验室菌株只捕获了一小部分已知在其野生祖先中分离的遗传变异，并且现有的菌株通常彼此相关。独立来自自然种群的近交系小鼠有可能增加遗传研究的能力，并增加新的遗传变异。在这里，我们对小鼠研究界称为“蒙彼利埃菌株”的26种野生菌株进行了外切组富集和高通量测序（~ 8 X覆盖率）。我们在数据集中鉴定了146万个SNP，其中约19%未在其他近交系中检测到。这种新的遗传变异预计将有助于表型变异，因为它们包括18，496个非同义变异和262个早期终止密码子。模拟表明，在蒙彼利埃菌株的遗传变异的密度较高，提供了定量遗传研究的增加的权力。由于将基因型与表型联系起来的能力取决于遗传变异，因此将这些额外的遗传菌株纳入未来的研究计划非常重要。
The house mouse is a powerful model to dissect the genetic basis of phenotypic variation, and serves as a model to study human diseases. Despite a wealth of discoveries, most classical laboratory strains have captured only a small fraction of genetic variation known to segregate in their wild progenitors, and existing strains are often related to each other. Inbred strains of mice independently derived from natural populations have the potential to increase power in genetic studies with the addition of novel genetic variation. Here, we perform exome-enrichment and high-throughput sequencing (~8X coverage) of 26 wild-derived strains known in the mouse research community as the “Montpellier strains”. We identified 1.46 million SNPs in our dataset, approximately 19% of which have not been detected from other inbred strains. This novel genetic variation is expected to contribute to phenotypic variation, as they include 18,496 nonsynonymous variants and 262 early stop codons. Simulations demonstrate that the higher density of genetic variation in the Montpellier strains provides increased power for quantitative genetic studies. Inasmuch as the power to connect genotype to phenotype depends on genetic variation, it is important to incorporate these additional genetic strains into future research programs.
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影响因子：
3.8
作者：
HALEY, CS;KNOTT, SA
通讯作者：
KNOTT, SA
影响因子：
9.8
作者：
Church DM;Goodstadt L;Hillier LW;Zody MC;Goldstein S;She X;Bult CJ;Agarwala R;Cherry JL;DiCuccio M;Hlavina W;Kapustin Y;Meric P;Maglott D;Birtle Z;Marques AC;Graves T;Zhou S;Teague B;Potamousis K;Churas C;Place M;Herschleb J;Runnheim R;Forrest D;Amos-Landgraf J;Schwartz DC;Cheng Z;Lindblad-Toh K;Eichler EE;Ponting CP;Mouse Genome Sequencing Consortium
通讯作者：
Mouse Genome Sequencing Consortium
DOI：
10.1007/bf01922917
发表时间：
1978-01-01
期刊：
EXPERIENTIA
影响因子：
--
作者：
BONHOMME, F;MARTIN, S;THALER, L
通讯作者：
THALER, L
影响因子：
9.8
作者：
Harr, Bettina;Karakoc, Emre;Neme, Rafik;Teschke, Meike;Pfeifle, Christine;Pezer, Zeljka;Babiker, Hiba;Linnenbrink, Miriam;Montero, Inka;Scavetta, Rick;Abai, Mohammad Reza;Puente Molins, Marta;Schlegel, Mathias;Ulrich, Rainer G.;Altmueller, Janine;Franitza, Marek;Buentge, Anna;Kuenzel, Sven;Tautz, Diethard
通讯作者：
Tautz, Diethard
使用下一代 DNA 测序数据进行变异发现和基因分型的框架。
影响因子：
30.8
作者：
通讯作者：
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