TY - JOUR
T1 - NEXT-GENERATION SEQUENCING-BASED APPROACHES FOR MUTATION MAPPING AND IDENTIFICATION IN C. ELEGANS
AU - Doitsidou, Maria
AU - Jarriault, Sophie
AU - Poole, Richard J.
PY - 2016/10/1
Y1 - 2016/10/1
N2 - The use of next-generation sequencing (NGS) has revolutionized the way phenotypic traits are assigned to genes. In this review, we describe NGS-based methods for mapping a mutation and identifying its molecular identity, with an emphasis on applications in Caenorhabditis elegans. In addition to an overview of the general principles and concepts, we discuss the main methods, provide practical and conceptual pointers, and guide the reader in the types of bioinformatics analyses that are required. Owing to the speed and the plummeting costs of NGS-based methods, mapping and cloning a mutation of interest has become straightforward, quick, and relatively easy. Removing this bottleneck previously associated with forward genetic screens has significantly advanced the use of genetics to probe fundamental biological processes in an unbiased manner.
AB - The use of next-generation sequencing (NGS) has revolutionized the way phenotypic traits are assigned to genes. In this review, we describe NGS-based methods for mapping a mutation and identifying its molecular identity, with an emphasis on applications in Caenorhabditis elegans. In addition to an overview of the general principles and concepts, we discuss the main methods, provide practical and conceptual pointers, and guide the reader in the types of bioinformatics analyses that are required. Owing to the speed and the plummeting costs of NGS-based methods, mapping and cloning a mutation of interest has become straightforward, quick, and relatively easy. Removing this bottleneck previously associated with forward genetic screens has significantly advanced the use of genetics to probe fundamental biological processes in an unbiased manner.
U2 - 10.1534/genetics.115.186197
DO - 10.1534/genetics.115.186197
M3 - Literature review
VL - 204
SP - 451
EP - 474
JO - Genetics
JF - Genetics
SN - 0016-6731
IS - 2
ER -