Sequence analysis is a cornerstone of modern bioinformatics, encompassing the computational exploration of biological sequences—be they DNA, RNA or proteins—to reveal insights into structure, function ...

Historical introduction and overview -- Collecting and storing sequences in the laboratory -- Alignment of pairs of sequences -- Introduction to probability and statistical analysis of sequence ...

Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...