Conference Proceedings

Systematic identification of causal mutations in Mendelian disorders using exome sequence data

M Lek, NF Clarke, L Waddell, B Thomas, M DePristo, MJ Daly, KN North, DG MacArthur

NEUROMUSCULAR DISORDERS | PERGAMON-ELSEVIER SCIENCE LTD | Published : 2013

DOI: 10.1016/j.nmd.2013.06.728

Keywords

Neurosciences
Science & Technology
Rare Diseases
2.1 Biological and Endogenous Factors
Biotechnology
Clinical Research
4.1 Discovery and Preclinical Testing of Markers and Technologies
4 Detection, Screening and Diagnosis
Clinical Neurology
Genetics
Neurosciences & Neurology
2 Aetiology
Human Genome
Life Sciences & Biomedicine