Editing Bioinformatics (section)

===Genetics of disease===
{{main|Genome-wide association studies}}

As of 2013, the existence of efficient high-throughput next-generation sequencing technology allows for the identification of cause many different human disorders. Simple [[Mendelian inheritance]] has been observed for over 3,000 disorders that have been identified at the [[Online Mendelian Inheritance in Man]] database, but complex diseases are more difficult. Association studies have found many individual genetic regions that individually are weakly associated with complex diseases (such as [[infertility]],<ref name="Demerec1945">{{cite journal | vauthors = Aston KI | title = Genetic susceptibility to male infertility: news from genome-wide association studies | journal = Andrology | volume = 2 | issue = 3 | pages = 315–21 | date = May 2014 | pmid = 24574159 | doi = 10.1111/j.2047-2927.2014.00188.x | s2cid = 206007180 | doi-access = free }}</ref> [[breast cancer]]<ref name="Véron2013">{{cite journal | vauthors = Véron A, Blein S, Cox DG | title = Genome-wide association studies and the clinic: a focus on breast cancer | journal = Biomarkers in Medicine | volume = 8 | issue = 2 | pages = 287–96 | year = 2014 | pmid = 24521025 | doi = 10.2217/bmm.13.121 }}</ref> and [[Alzheimer's disease]]<ref name="Tosto2013">{{cite journal | vauthors = Tosto G, Reitz C | title = Genome-wide association studies in Alzheimer's disease: a review | journal = Current Neurology and Neuroscience Reports | volume = 13 | issue = 10 | pages = 381 | date = October 2013 | pmid = 23954969 | pmc = 3809844 | doi = 10.1007/s11910-013-0381-0 }}</ref>), rather than a single cause.<ref name="Londin2013">{{Cite book |vauthors=Londin E, Yadav P, Surrey S, Kricka LJ, Fortina P |chapter=Use of linkage analysis, genome-wide association studies, and next-generation sequencing in the identification of disease-causing mutations |title=Pharmacogenomics |volume=1015 |pages=127–46 |year=2013 |pmid=23824853 |doi=10.1007/978-1-62703-435-7_8 |isbn=978-1-62703-434-0 |series=Methods in Molecular Biology }}</ref><ref>{{cite journal | vauthors = Hindorff LA, Sethupathy P, Junkins HA, Ramos EM, Mehta JP, Collins FS, Manolio TA | title = Potential etiologic and functional implications of genome-wide association loci for human diseases and traits | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 106 | issue = 23 | pages = 9362–7 | date = June 2009 | pmid = 19474294 | pmc = 2687147 | doi = 10.1073/pnas.0903103106 | doi-access = free | bibcode = 2009PNAS..106.9362H }}</ref> There are currently many challenges to using genes for diagnosis and treatment, such as how we don't know which genes are important, or how stable the choices an algorithm provides.<ref>{{Cite book | vauthors = Hall LO |title=2010 International Conference on System Science and Engineering |chapter=Finding the right genes for disease and prognosis prediction |date=2010 |pages=1–2 |doi=10.1109/ICSSE.2010.5551766|isbn=978-1-4244-6472-2 |s2cid=21622726 }}</ref>

Genome-wide association studies have successfully identified thousands of common genetic variants for complex diseases and traits; however, these common variants only explain a small fraction of heritability.<ref>{{cite journal |last1=Manolio |first1=Teri A. |last2=Collins |first2=Francis S. |last3=Cox |first3=Nancy J. |last4=Goldstein |first4=David B. |last5=Hindorff |first5=Lucia A. |last6=Hunter |first6=David J. |last7=McCarthy |first7=Mark I. |last8=Ramos |first8=Erin M. |last9=Cardon |first9=Lon R. |last10=Chakravarti |first10=Aravinda |last11=Cho |first11=Judy H. |last12=Guttmacher |first12=Alan E. |last13=Kong |first13=Augustine |last14=Kruglyak |first14=Leonid |last15=Mardis |first15=Elaine |last16=Rotimi |first16=Charles N. |last17=Slatkin |first17=Montgomery |last18=Valle |first18=David |last19=Whittemore |first19=Alice S. |last20=Boehnke |first20=Michael |last21=Clark |first21=Andrew G. |last22=Eichler |first22=Evan E. |last23=Gibson |first23=Greg |last24=Haines |first24=Jonathan L. |last25=Mackay |first25=Trudy F. C. |last26=McCarroll |first26=Steven A. |last27=Visscher |first27=Peter M. |title=Finding the missing heritability of complex diseases |journal=Nature |date=October 2009 |volume=461 |issue=7265 |pages=747–753 |doi=10.1038/nature08494|pmid=19812666 |pmc=2831613 |bibcode=2009Natur.461..747M }}</ref> [[rare functional variant|Rare variants]] may account for some of the [[missing heritability]].<ref>{{cite journal |last1=Wainschtein |first1=Pierrick |last2=Jain |first2=Deepti |last3=Zheng |first3=Zhili |last4=Aslibekyan |first4=Stella |last5=Becker |first5=Diane |last6=Bi |first6=Wenjian |last7=Brody |first7=Jennifer |last8=Carlson |first8=Jenna C. |last9=Correa |first9=Adolfo |last10=Du |first10=Margaret Mengmeng |last11=Fernandez-Rhodes |first11=Lindsay |last12=Ferrier |first12=Kendra R. |last13=Graff |first13=Misa |last14=Guo |first14=Xiuqing |last15=He |first15=Jiang |last16=Heard-Costa |first16=Nancy L. |last17=Highland |first17=Heather M. |last18=Hirschhorn |first18=Joel N. |last19=Howard-Claudio |first19=Candace M. |last20=Isasi |first20=Carmen R. |last21=Jackson |first21=Rebecca |last22=Jiang |first22=Jicai |last23=Joehanes |first23=Roby |last24=Justice |first24=Anne E. |last25=Kalyani |first25=Rita R. |last26=Kardia |first26=Sharon |last27=Lange |first27=Ethan |last28=LeBoff |first28=Meryl |last29=Lee |first29=Seunggeun |last30=Li |first30=Xihao |last31=Li |first31=Zilin |last32=Lim |first32=Elise |last33=Lin |first33=Danyu |last34=Lin |first34=Xihong |last35=Liu |first35=Simin |last36=Lu |first36=Yingchang |last37=Manson |first37=JoAnn |last38=Martin |first38=Lisa |last39=McHugh |first39=Caitlin |last40=Mikulla |first40=Julie |last41=Musani |first41=Solomon K. |last42=Ng |first42=Maggie |last43=Nickerson |first43=Deborah |last44=Palmer |first44=Nicholette |last45=Perry |first45=James |last46=Peters |first46=Ulrike |last47=Preuss |first47=Michael |last48=Qi |first48=Qibin |last49=Raffield |first49=Laura |last50=Rasmussen-Torvik |first50=Laura |last51=Reiner |first51=Alex |last52=Russell |first52=Emily M. |last53=Sitlani |first53=Colleen |last54=Smith |first54=Jennifer |last55=Spracklen |first55=Cassandra N. |last56=Wang |first56=Tao |last57=Wang |first57=Zhe |last58=Wessel |first58=Jennifer |last59=Xu |first59=Hanfei |last60=Yaser |first60=Mohammad |last61=Yoneyama |first61=Sachiko |last62=Young |first62=Kendra A. |last63=Zhang |first63=Jingwen |last64=Zhang |first64=Xinruo |last65=Zhou |first65=Hufeng |last66=Zhu |first66=Xiaofeng |last67=Zoellner |first67=Sebastian |last68=Abe |first68=Namiko |last69=Abecasis |first69=Gonçalo |last70=Aguet |first70=Francois |last71=Almasy |first71=Laura |last72=Alonso |first72=Alvaro |last73=Ament |first73=Seth |last74=Anderson |first74=Peter |last75=Anugu |first75=Pramod |last76=Applebaum-Bowden |first76=Deborah |last77=Ardlie |first77=Kristin |last78=Arking |first78=Dan |last79=Ashley-Koch |first79=Allison |last80=Assimes |first80=Tim |last81=Auer |first81=Paul |last82=Avramopoulos |first82=Dimitrios |last83=Ayas |first83=Najib |last84=Balasubramanian |first84=Adithya |last85=Barnard |first85=John |last86=Barnes |first86=Kathleen |last87=Barr |first87=R. 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Adrienne |last414=Shadyab |first414=Aladdin H. |last415=McKnight |first415=Barbara |last416=Shoemaker |first416=Benjamin M. |last417=Mitchell |first417=Braxton D. |last418=Psaty |first418=Bruce M. |last419=Kooperberg |first419=Charles |last420=Liu |first420=Ching-Ti |last421=Albert |first421=Christine M. |last422=Roden |first422=Dan |last423=Chasman |first423=Daniel I. |last424=Darbar |first424=Dawood |last425=Lloyd-Jones |first425=Donald M. |last426=Arnett |first426=Donna K. |last427=Regan |first427=Elizabeth A. |last428=Boerwinkle |first428=Eric |last429=Rotter |first429=Jerome I. |last430=O'Connell |first430=Jeffrey R. |last431=Yanek |first431=Lisa R. |last432=de Andrade |first432=Mariza |last433=Allison |first433=Matthew A. |last434=McDonald |first434=Merry-Lynn N. |last435=Chung |first435=Mina K. |last436=Fornage |first436=Myriam |last437=Chami |first437=Nathalie |last438=Smith |first438=Nicholas L. |last439=Ellinor |first439=Patrick T. |last440=Vasan |first440=Ramachandran S. |last441=Mathias |first441=Rasika A. |last442=Loos |first442=Ruth J. 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