Accurate de novo and transmitted indel detection in exome-capture data using microassembly

摘要

Although the analysis of single-nucleotide variations (SNVs) has become a standard technique to study human genetics, indels in DNA sequences cannot be detected as reliably. Indels are the second most common source of variation in human genomes and the most common structural variant. Within microsatellites (simple sequence repeats, SSRs, of 1- to 6-bp motifs), indels alter the length of the repeat motif and have been linked to more than 40 neurological diseases. Indels also are an important genetic component in autism:de novo indels that are likely to disrupt the encoded protein are nearly twice as abundant in affected children than in their unaffected siblings.