Concepedia

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

Davut Pehli̇van, Yavuz Bayram, Nilay Güneş, Zeynep Coban‐Akdemir, Anju Shukla, Tatjana Bierhals, Burcu Tabakci, Yavuz Şahin, Alper Gezdirici, Jawid M. Fatih,

The American Journal of Human Genetics · 2019 · 121 citations · 60 references

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60

The Sequence Alignment/Map format and SAMtools

Heng Li, Alec Wysoker, Tim Fennell et al. · Bioinformatics · 2009 · 67.5K 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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Circular binary segmentation for the analysis of array-based DNA copy number data

Adam B. Olshen, E. S. Venkatraman, R. Lucito et al. · Biostatistics · 2004 · 2.4K citations

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Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

Yaping Yang, Donna M. Muzny, Jeffrey G. Reid et al. · New England Journal of Medicine · 2013 · 2K citations · Full text

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GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

Nara Sobreira, François Schiettecatte, David Valle et al. · Human Mutation · 2015 · 1.6K citations · Full text

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