I-AI ibonane nezingcweti zengozi entsha ye-sclerosus
I-AI ibonane nezingcweti zengozi entsha ye-sclerosus ichaza ukuthi abacwaningi basebenzisa kanjani ukulandelwa kwezobuthako nokuhlelwa okuphezulu ukuze kuthuthukiswe ukuqonda kwethu i-sclelerosis, isimo esingajwayelekile se-autoimmune enezinto eziyinkimbinkimbi zofuzo. Iqembu lomhlaba wonke lisebenzise amamodeli wokufunda ngomshini kuma-datasets amakhulu futhi akhombe izinhlobo eziyishumi ezintsha ezingakhulisa ubungozi bokuthola lesi sifo. Inhlanganisela yesayensi ye-computational kanye namamaki wedatha ye-genomic inqubekela phambili ekuhlolweni okunembe kakhudlwana kanye namasu okuthola ukwelashwa angaba khona.
Ukuthathwa Key
- Izingozi eziyishumi ezintsha ze-screalerosis zobungozi ze-system
- Ukuhlaziywa kufaka phakathi okuhlukahlukene okujwayelekile nokungavamile, okunikeza imininingwane ngezindlela zokuzivikela ezihlobene nalesi sifo.
- Izindlela Zokufunda Zomshini zengeze amasu wokuhlola wendabuko wendabuko.
- Okutholakele kusesigabeni sokucwaninga futhi akukavunyelwa ukusetshenziswa kwemitholampilo.
Izinselelo zofuzo ekuqondeni system sclerosis
I-Systemic Sclerosis, futhi kubhekiselwe kuyo njenge-Scleroderma, yisifo se-autoimmune esithinta izicubu ezithintekayo, okuholela ku-fibrosis kanye nomonakalo we-vascular. Ngenkathi izifundo zobungozi be-genome zangaphambilini zithole izifunda ezimbalwa zengozi, ababahlinzeki abaningi bezakhi zofuzo bahlala bengatholakali. Ukuvuselelwa kwe-SSC, kanye nobunzima bayo, kwakha izinselelo zokuqoqa imininingwane emikhulu ngokwanele. Izindlela zendabuko zivame ukubona kuphela okuhlukahlukene okuvame kakhulu futhi kungaphuthelwa izinto zofuzo ezicashile.
Lesi sifo sithinta kakhulu ukusebenza kwesitho kanye nekhwalithi yempilo kulokho okutholakele. Ngokuvumelana nezinye iziphazamiso ze-auposiumune njenge-rupus kanye ne-rheumatoid arthritis, ukwembula izakhi zofuzo ze-SSC kungaholela ekwelashweni okuhlosiwe kanye nokuhlukaniswa okungcono kweziguli.
Ukulandelana okuyisisekelo kunikeza ukubukeka okusondele
Kulolu cwaningo, ososayensi basebenzise ukulandelana ngokuphelele ukuze bahlole kuphela izingxenye zama-protein kuphela ze-genome. Lezi zindawo zilandisa nje ngengxenye encane ye-DNA ephelele kepha zifaka iningi lezinguquko ezithonya izifo. Ngokulandelana abantu abangaphezu kwe-10,000 kusuka ezingeni nasezingeniso zokhokho abaningi, bakhomba zombili ezahlukene futhi ezingandile ezingaba nomthelela ekuphenduleni komzimba kanye nokuthuthukiswa kwe-fibrosis.
Ukuhlukahluka okungavamile kuvame ukungatholakali ezifundweni ezibanzi, nokho zingabamba izinkomba ezibucayi ekuthuthukisweni kwezifo. Abaphenyi basebenzise izivivinyo ze-gene-level ukuze bahlole umphumela ohlanganisiwe wokuhluka okuqoqwe ngaphakathi kwezakhi zofuzo, okwenza idatha ifundise kakhudlwana ngezimo ezinjenge-SSC.
I-AI isiza kanjani ukuthola izinhlobo zezifo
Ubuhlakani bokufakelwa buvumele iqembu lokucwaninga ukuthi lihlaziye amaphethini ayinkimbinkimbi emininingwane ye-genomic. Basebenzise amamodeli afana namahlathi angahleliwe kanye ne-xgboost ukuze ahlukanise amasampula kanye nezikhundla zofuzo ezingaba yingozi. Lawa mathuluzi asiza ukukhomba ukusebenzisana phakathi kohlobo nohlobo lokuhlukahluka, kwalapho kudlula lokho ukuhlaziywa okungajwayelekile okungaveza khona. I-AI iphinde yanika amandla ukuhlanganiswa okungeziwe kwemininingwane efana ne-gene shopress kanye namaphrofayli weseli emthethweni ukunquma ukuhambisana kwe-biological.
Leliqhinga liguqula inqubo yokuthola ukutholakala kwezimo zofuzo. Ukuze uthole ukubukeka okuningiliziwe ukusetshenziswa kwayo okubanzi, bheka i-AI kuma-genomics nokuhlaziywa kofuzo.
Uhlobo oluyishumi olusanda kuhlonzwa luxhumeke ku-systemic sclerosis
Abaphenyi baqamba izinhlobo eziyishumi ezazingakaze zihlotshaniswe ngaphambili nge-systemic sclerosis ezifundweni ezinkulu:
- Rfx1: Ukubandakanya entlelweni ye-antigen kanye nomsebenzi we-t-cell cellec.
- EMP1: Ilawula ukusebenza kweseli le-epithelial kanye nemithelela yokuphendula komzimba.
- Dysf: Usekela ukulungiswa kwe-membrane cell membrane futhi unezindima ekuvuvukeni.
- IL12RB2: Ingxenye ye-receptor ye-interleukin-12, ebalulekile kwizimpendulo ze-TH1.
- CSF3R: I-receptor elawula ukukhiqizwa kwe-neutrophil kanye nomsebenzi wobuntu.
- I-Stat5b: I-Key Transiprecript Press ibangelwa ukusayinwa kweCytokine.
- SLC15A4: Kuthinta ukusayinwa komzimba ngama-toll-like receptors.
- I-ZNF77: Uhlobo oluhlobene umbhalo oluhlobene nomthetho.
- I-InHBB: Ungowemndeni we-TGF-β, okungenzeka ukuthi uthonye izindlela ze-Fibrosis.
- Pram1: Kuvezwe emangqamuzaneni we-ayloid futhi kuxhunyaniswe nokufakwa kwamaseli we-imzimbeni kanye nokwenza kusebenze.
Lezi zifuzo ziqokomisa ukuthi amasistimu ahlukene ngokwemvelo ahlukile kangakanani ezifweni, kufaka phakathi isethulo se-antigen, i-fibrosis, ukusebenzisana kwe-cytosine, kanye nokulungiswa kwamaselula. Amaprotheni amaningana afakwe yilezi zifuzo asebenza ekuzivikeleni izicubu zomzimba nasezindleleni.
Ukuqinisekiswa ngama-cohorts aphesheya
Ukuqinisekisa ukunemba, ucwaningo oluhilela idatha ye-genomic kusuka kubantu abaningi kulo lonke elaseYurophu, eNyakatho Melika nase-Asia. Njalo i-cohort elandelwa ukulandelana okuhleliwe nokuhlaziywa kwezivumelwano, kunciphisa ithuba lephutha noma inani labantu abathandayo. Le ndlela isekela ukungaguquguquki futhi yenza okutholakele kusebenze kakhulu emizamweni yezokunakekelwa kwempilo yomhlaba.
Qhathanisa nezifundo zofuzo zangaphambilini
Izifundo zangaphambilini zikhombe izinhlobo zofuzo njenge-Stat4, i-IRF5, kanye ne-CD247 njenge-SSC. Lokhu kuqhamuke kakhulu kusuka kuma-arrays asuselwa ku-genotyping asuselwa ku-snp futhi kugxile ekuhlukahlukani okufanayo. Ucwaningo lwamanje luyehluka ngokuthola ukuhlukahluka okungavamile nokusebenzisa umshini wokufunda ukuhlola amanethiwekhi ahlukahlukene ahlukahlukene. Isibonelo, ukutholwa okubandakanya ufuzo njenge-EMP1 ne-PRAM1 bebengekho ezifundweni eziningi zangaphambili ngenxa yokulinganiselwa kwezobuchwepheshe nokuhlaziya.
Le shift ngendlela yeWedway ikhombisa ukunyakaza okubanzi kumasu ahlanganisiwe ahlanganiswe, aqhutshwa idatha afana nalezo ezichazwe kwizicelo ze-AI zokuqonda izifo ze-autoimmune.
Umthelela ocwaningweni lwezokwelapha kanye nokunakekelwa kwempilo
Le miphumela inenani lokucwaninga eliqinile kepha alikulungele ukusetshenziswa kwemitholampilo okwamanje. Ukuhlolwa kwezakhi zofuzo ngokususelwa kulawa atholakele akufanele kusetshenziswe ngaphandle kwezilungiselelo zocwaningo. Izakhi zofuzo zisebenza njengendawo yokuqala yezifundo zesikhathi esizayo kumamodeli welebhu, ukuhlanganiswa kweziguli, kanye nokwakheka kwezokwelapha okungenzeka.
Njengoba idatha engaphezulu itholakala, lokhu okutholakele kungagcina ukusekela izindlela ezinjengokuxilonga okubikezelayo kokutholwa kwezifo. Umuthi we-Picision udinga iziguli ezihlanzayo ezisuselwa kwi-biology engaphansi kwezimpawu, futhi lolu lwazi lwafuzo luthuthuka kuleyo ndlela.
Amandla aguqukayo e-AI kuma-genomics
I-Artificial Intelligence inikezela ngamathuluzi anamandla ukuxazulula izinkinga emithini yofuzo. Ngokuhlaziya izinombolo ezinkulu zokuhlukahluka, i-AI ingathola amaphethini okungenzeka anganakwa. Kulolu cwaningo, amamodeli ahlanganiswe amazinga e-gene gene expression, ebeka phambili ebekwe e-genomic, kanye namamodeli we-polygenic engcupheni ye-polygenic. Lawa mathuluzi asiza ukuveza ukwakheka okufihliwe kweSystem Sclerosis.
Ukusetshenziswa kwe-AI nokwenza umehluko ezindaweni ezihlobene nokuthola izidakamizwa kanye nokuthuthukiswa kwezidakamizwa, lapho kusetshenziswa khona izindlela ezifanayo ukukhomba imigomo emisha yokwelashwa.
I-FAQ's
Kuyini ukulandelana okuzungezile?
Ukuhlelwa kabusha kwe-exmome kuyindlela ye-genomic ehlaziya izifunda ezinama-proteins zezakhi zofuzo, ezaziwa ngokuthi ama-exens, ezakha cishe ngo-1-2% we-genome yomuntu.
Kungani ukulandelana okuphezulu okubalulekile?
Yize ama-Exens eyingxenye encane ye-genome, aqukethe ama-85% ezinguquko ezibangelwa izifo. Ukulandelana okuyisisekelo kusiza ukubona lezi zinguquko kubantu abanezimo zofuzo ezingachazwanga.
Ngubani okufanele acabangele ukulandelana okuningana?
Kuvame ukusetshenziselwa iziguli ezinezifo ezingandile ezingabonakali, ukuphazamiseka okuzuzwe njengefa, noma izimpawu eziyinkimbinkimbi ezingahambelani nokuxilongwa okucacile.
Kwehluke kanjani ngokulandelana kona konke?
Ukulandelana kwe-genome yonke kufundwa konke ukulandelana kwe-DNA, kufaka phakathi izifunda ezingezona amakhodi. Ukulandelana okuyisisekelo kugxile kuphela kuma-Exens kuphela, okwenza kusheshe futhi kungabizi kakhulu ezimweni eziningi.
Ukulandelana okuyisisekelo okuchazayo?
Hhayi njalo. Kungakhomba ukuhlukahluka kokubaluleka okungaqinisekile (vus) okudinga ukuhunyushwa okwengeziwe kwemitholampilo noma ukuhlolwa komndeni ukuqinisekisa iqhaza labo ezifweni.
Kuyini ukuhlelwa kwesisu?
I-Systemic Sclerosis, noma i-Scleroderma, yisifo esingajwayelekile sokuzenzakalelayo esibonakaliswa ngokuqina kanye nokuqinisa isikhumba nezicubu ezixhunyiwe. Kungathinta futhi nezitho zangaphakathi.
Yini izimpawu?
Izimpawu ezijwayelekile zifaka phakathi ukuqina kwesikhumba, into kaRaynaud, ukuqina okuhlangene, izindaba zokugaya ukudla, kanye nokuphefumula.
Yini ebangela i-spitic sclerosis?
Imbangela ngqo ayikaziwa, kepha ifaka amasosha omzimba aphezulu aholela ku-fibrosis, ukulimala komkhumbi wegazi, nokuvuvukala.
Kutholakala kanjani?
Ukuxilongwa kususelwa kwizimpawu zemitholampilo, ukuhlolwa kwegazi (njenge-ANA ne-Anti-SCL-70), imaging, futhi kwesinye isikhathi isikhumba noma izikhumba noma izikhumba noma izikhumba noma izikhumba noma izikhumba noma izikhumba noma izikhumba noma izikhumba noma izikhumba noma izikhumba noma izikhumba noma izikhumba noma izikhumba noma izikhumba noma izikhumba noma izikhumba noma izikhumba noma izikhumba noma izikhumba noma izikhumba noma izikhumba noma izikhumba noma izikhumba noma izikhumba noma izikhumba noma izikhumba noma izikhumba ze-biopsies.
Ingabe kukhona ikhambi?
Alikho ikhambi, kepha ukwelashwa okufana nama-immunosuppressions, ama-vasodilators, kanye nokwelashwa ngokomzimba kungasiza ukuphatha izimpawu nokuqhubekela phambili kancane.
Uyini umuthi oqondile?
I-PRIRETION umuthi ohambisa ukwelashwa kanye namasu wokuvimbela asuselwa ekuhlukaneni komuntu ngamunye ngohlobo, imvelo kanye nendlela yokuphila.
Ngabe i-Ai isetshenziswa kanjani ekuqopheni umuthi?
I-AI ihlaziya imininingwane emikhulu evela kwa-genomics, ukucabanga kwezokwelapha, namarekhodi ezempilo kagesi ukuthola amaphethini futhi anakekele.
Ngabe i-AI ingabikezela ubungozi bezifo?
Yebo. Amamodeli we-AI angahlola idatha yofuzo neyomtholampilo ukubikezela ukuthambekela kwezifo ezinjengomdlavuza, isifo sikashukela kanye nezimo zenhliziyo.
Ngabe i-Ai isiza kanjani odokotela?
I-AI Isiza ekuxilongeni, ekukhetheni ukwelashwa, kanye nokukhiqizwa kweziguli, okwenza izinqumo ezinolwazi eziningi zinesivinini esikhulu nokunemba.
Ingabe kukhona ubungozi ngokusebenzisa i-AI ekunakekelweni kwezempilo?
Amamodeli we-AI angabonisa u-bias noma athela ama-positive angamanga uma kungaqinisekiswa kahle. Ukwengamela komuntu nokuhlolwa okuqinile kubalulekile.
Kungani ukuhlolwa kwezakhi zofuzo kubalulekile ezifweni ezingandile?
Kuyasiza ukubona imbangela yofuzo eyisisekelo yesifo, okwenza ukuthi zikwazi ukutholakala kahle ukutholakala, ukuhlela umndeni, kanye nokwelashwa okuhlosiwe.
Kufanele kubhekwe nini ukuhlolwa kofuzo?
Ngokuvamile kunconywa lapho izimpawu zisikisela isimo sofuzo noma lapho kunomlando womndeni wokuphazamiseka okungatheni.
Yiziphi izinhlobo zokuhlolwa kofuzo ezisetshenziswayo?
Ukuhlolwa okujwayelekile kufaka phakathi ukuhlolwa kwe-single-gene, ukuhlolwa kwephaneli, ukulandelana okuphezulu, nokulandelana konalo lonke.
Ngabe ukuhlolwa kofuzo kuzohlala kuthola impendulo?
Hhayi njalo. Kwesinye isikhathi imiphumela inemiphumela engafani noma yokukhomba okuhlukahlukene kokubaluleka okungaziwa, kudinga ucwaningo olwengeziwe noma ukuhlolwa kokulandela.
Ingabe Ukuhlolwa Komhlahlandlela Ofundwa Kwezakhi Zofuzo?
Yebo. Kwezinye izimo, kungakhomba ukuguqulwa okulungele ukwelashwa okuhlosiwe noma izivivinyo zemitholampilo ezihambisana nezinguquko ezithile zofuzo.
Ukunqubekela phambili
UBrynjlyson, u-Erik no-Andrew Mccafee. I-Second Machine Age: Umsebenzi, inqubekela phambili kanye nokuchuma ngesikhathi sobuchwepheshe obuhle kakhulu. Ww Norton & Inkampani, 2016.
UMarcus, uGary, no-Ernest Davis. Ukuqalisa kabusha i-AI: Ukwakha ubuhlakani bokufakelwa esingabethemba. Vintage, 2019.
URussell, uStuart. Iyahambisana nomuntu: ubuhlakani bokufakelwa kanye nenkinga yokulawula. IViking, 2019.
Webb, Amy. The Big Nine: ukuthi ama-Tech Titans kanye nemishini yabo yokucabanga kungalwa nobuntu. I-PARTRACTAINTAINTAINTAINTAINTAINTE, 2019.
U-Crivier, Daniyeli. I-AI: umlando oshukumisayo wokucinga kobuhlakani bokufakelwa. Izincwadi eziyisisekelo, ngo-1993.
