Concepedia

Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance

Khurram Liaqat, Isabelle Schrauwen, Syed Irfan Raza, Kwanghyuk Lee, Shabir Hussain, Imen Chakchouk, Anushree Acharya, Izoduwa Abbe, Muhammad Umair, Muhammad Ansar,

Journal of Human Genetics · 2018 · 46 citations · 23 references

DOIFull text

Open access

Concepts

References

23

Fast and accurate short read alignment with Burrows–Wheeler transform

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

, , +12

UCSF Chimera—A visualization system for exploratory research and analysis

Eric F. Pettersen, Thomas D. Goddard, Conrad C. Huang et al. · Journal of Computational Chemistry · 2004 · 47.8K citations

, , +17

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

, , +17

The PyMOL Molecular Graphics System

Warren L. DeLano · Medical Entomology and Zoology · 2002 · 18.1K citations

, , +11

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

, , +17