1. The genetic basis of disease;Jackson;Essays Biochem.,2018
2. Distributions of exons and introns in the human genome;Sakharkar;In Silico Biol.,2004
3. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing;Choi;PNAS,2009
4. D.N. Cooper, M. Krawczak, S.E.J.B.S. Antonarakis, The nature and mechanisms of human gene mutation, 2001.
5. Whole-Exome Sequencing (WES) for illumina short read sequencers using solution-based capture;Mahajan;Meth. Mole. Biol. (Clifton N.J.),2020