Concepedia

Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification

Xiang‐Ping Yao, Xuewen Cheng, Chong Wang, Miao Zhao, Hui‐Zhen Su, Lu‐Lu Lai, Xiaohuan Zou, Xuejiao Chen, Yuying Zhao, En‐Lin Dong,

Neuron · 2018 · 156 citations · 26 references

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26

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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One-Step Generation of Mice Carrying Mutations in Multiple Genes by CRISPR/Cas-Mediated Genome Engineering

Haoyi Wang, Hui Yang, Chikdu Shivalila et al. · Cell · 2013 · 3.6K citations · Full text

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Parametric and nonparametric linkage analysis: a unified multipoint approach.

Leonid Kruglyak, Mark J. Daly, Mary Pat Reeve-Daly et al. · PubMed · 1996 · 2.9K citations · Full text

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