Editing Frameshift mutation (section)

====Sequencing====
[[File:Frameshift deletion (13062713935).jpg|thumb|A deletion mutation alters every codon following it, and can make protein synthesis stop prematurely by forming a [[stop codon]].]]
[[Sanger sequencing]] and [[pyrosequencing]] are two methods that have been used to detect frameshift mutations, however, it is likely that data generated will not be of the highest quality. Even still, 1.96 million [[indel]]s have been identified through Sanger sequencing that do not overlap with other databases. When a frameshift mutation is observed it is compared against the Human Genome Mutation Database (HGMD) to determine if the mutation has a damaging effect. This is done by looking at four features. First, the ratio between the affected and conserved DNA, second the location of the mutation relative to the transcript, third the ratio of conserved and affected amino acids and finally the distance of the indel to the end of the [[exon]].<ref name="predicting frameshifts" />

[[Massively parallel sequencing|Massively Parallel Sequencing]] is a newer method that can be used to detect mutations. Using this method, up to 17 gigabases can be sequenced at once, as opposed to limited ranges for [[Sanger sequencing]] of only about 1 kilobase. Several technologies are available to perform this test and it is being looked at to be used in clinical applications.<ref name="TuckerMarra2009">{{cite journal|last1=Tucker|first1=Tracy|last2=Marra|first2=Marco|last3=Friedman|first3=Jan M.|title=Massively Parallel Sequencing: The Next Big Thing in Genetic Medicine|journal=The American Journal of Human Genetics|volume=85|issue=2|year=2009|pages=142–154 |doi=10.1016/j.ajhg.2009.06.022|pmid=19679224|pmc=2725244}}</ref> When testing for different carcinomas, current methods only allow for looking at one gene at a time. Massively Parallel Sequencing can test for a variety of cancer causing mutations at once as opposed to several specific tests.<ref name="WalshCasadei2011">{{cite journal|last1 = Walsh|first1 = T.|last2 = Casadei|first2 = S.|last3 = Lee|first3 = M. K.|last4 = Pennil|first4 = C. C.|last5 = Nord|first5 = A. S.|last6 = Thornton|first6 = A. M.|last7 = Roeb|first7 = W.|last8 = Agnew|first8 = K. J.|last9 = Stray|first9 = S. M.|last10 = Wickramanayake|first10 = A.|last11 = Norquist|first11 = B.|last12 = Pennington|first12 = K. P.|last13 = Garcia|first13 = R. L.|last14 = King|first14 = M.-C.|last15 = Swisher|first15 = E. M.|title = From the Cover: Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing|journal =Proc Natl Acad Sci U S A |volume = 108|issue = 44|year = 2011|pages = 18032–7|doi = 10.1073/pnas.1115052108 |pmid=22006311 |pmc=3207658 |bibcode = 2011PNAS..10818032W|doi-access = free}}</ref> An experiment to determine the accuracy of this newer sequencing method tested for 21 genes and had no false positive calls for frameshift mutations.<ref name="WalshLee2010">{{cite journal|last1=Walsh|first1=T.|last2=Lee|first2=M. K.|last3=Casadei|first3=S.|last4=Thornton|first4=A. M.|last5=Stray|first5=S. M.|last6=Pennil|first6=C.|last7=Nord|first7=A. S.|last8=Mandell|first8=J. B.|last9=Swisher|first9=E. M.|last10=King|first10=M.-C.|title=Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing|journal=Proc Natl Acad Sci U S A |volume=107|issue=28|year=2010|pages=12629–33 |doi=10.1073/pnas.1007983107 |pmid=20616022 |pmc=2906584 |bibcode=2010PNAS..10712629W|doi-access=free}}</ref>