title: Targeted sequencing using Affymetrix CustomSeq Arrays.
abstract: This unit provides a basic protocol for oligo hybridization-based sequencing technology and resulting data analysis specific to the Affymetrix GeneChip CustomSeq Resequencing Array platform. All steps and critical aspects related to array design, experimental protocols, data management, and base-calling algorithms are addressed. This unit is particularly appropriate for sequencing targeted regions of the genome of up to 300 kilobases. The basic technology is most suitable for detecting substitution mutations, unless targeted indel probes are added.
authors.affiliation: Harvard Medical School, Boston, Massachusetts, USA.
authors.forename: Polakit
authors.initials: P
authors.lastname: Teekakirikul
authors.forename: Stephanie
authors.initials: S
authors.lastname: Cox
authors.forename: Birgit
authors.initials: B
authors.lastname: Funke
authors.forename: Heidi L
authors.initials: HL
authors.lastname: Rehm
mesh_terms: D004252:DNA Mutational Analysis / Q000379:methods; D004194:Disease / Q000235:genetics; D059014:High-Throughput Nucleotide Sequencing / Q000295:instrumentation / Q000379:methods*; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis / Q000295:instrumentation / Q000379:methods*