Concepedia

Biallelic Mutations in PATL2 Cause Female Infertility Characterized by Oocyte Maturation Arrest

Biaobang Chen, Zhihua Zhang, Xiaoxi Sun, Yanping Kuang, Xiaoyan Mao, Xueqian Wang, Zheng Yan, Bin Li, Yao Xu, Min Yu,

The American Journal of Human Genetics · 2017 · 164 citations · 17 references

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17

Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K citations · Full text

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Aaron McKenna, Matthew G. Hanna, Eric Banks et al. · Genome Research · 2010 · 30K citations · Full text

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Kai Wang, Man Li, Håkon Håkonarson · Nucleic Acids Research · 2010 · 15.6K citations · Full text

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HomozygosityMapper--an interactive approach to homozygosity mapping

Dominik Seelow, Markus Schuelke, Friedhelm Hildebrandt et al. · Nucleic Acids Research · 2009 · 375 citations · Full text

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Mutations in <i>TUBB8</i> and Human Oocyte Meiotic Arrest

Ruizhi Feng, Qing Sang, Yanping Kuang et al. · New England Journal of Medicine · 2016 · 325 citations · Full text

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