Zulu translation of DOI: 10.1101/2020.11.12.380295
Inhlanganisa yama-genomes abantu i-GRCh37 isasetshenziswa kwi-genomics ngale kokuthi kukhona inhlanganisa yama-genomes ebuyekeziwe (GRCh38) isineminyaka ikhona.
Inkinga ekhona ngemiphumela yezakhi zofuzo kwezokwelapha indaba ye-GRCh37 Ensembl gene annotations esezinqolobaneni, okusho ukuthi ayibuyekeziwe kusukela ngo-2013.
Lama-Ensemble GRCh37 gene annotations ayonke indawo njengenhlanganisa endala futhi angamamodeli azenzakalelayo asetshenziswa kumaphrojekthi ezofuzo emazweni ngamazwe.
Kulolucwaningo, sigqamisa indaba yofuzo olunezichasiselo ezingafani, ezibonakale njengekhodi yamaphrotheni enhlanganisweni entsha.
Lezi zakhi zofuzo azinakiwe ezinsizeni zezofuzo ezisancike ezinqolobaneni ezinezakho zofuzo ezinezichasiselo eziphelelwe isikhathi.
Ngaphezu kwalokho, iningi lalolufuzo olungefani (DGs) luyalahlwa futhi lunganakwa amathuluzi ahlela ukuhluka kofuzo ngokubaluleka oluthembele kwi-GRCh37 Ensembl gene annotations.
Kwenziwe ukuhlaziya kwe-bioinformatics okukhombe ama-Ensembl genes ahlukile phakathi kwenhlanganisa yama-genomes abantu, hg37, hg38 ngokulandelana.
Kuthathwe kwaqhathaniswa ama-phenotype okuhlelwa kofuzo kwezempilo kulesethi.
Ngaphezu kwalokho, imibhalo yama-RefSeq eqondene nalokhu iqoqiwe yahlaziywa.
Sithole amakhulu ofuzo i-(N=267) afakwe ezikhaleni ezintsha ze “protein-coding” enhlanganiseleni ye-hg38 entsha.
Ikakhulukazi, u169 walezi zakhi nophawu lofuzo i-HGNC gene oluhlukile kulezi ezimbili.
Ufuzo oluningi lufana ne RefSeq (N=199/267) okufakwa kuyo lonke ufuzo olunenhlanganisa yama-phenotypes e-Ensembl genes GRCh38 assembly (N=10).
Nokhoke, ama-protein-coding genes amaningi awekho kumamodeli asiwa manje aziwa nge-RefSeq (N=68)
Sithole ufuzo olusebenza kwezokwelapha kuleli qoqo lofuzo olunganakiwe silindele ukuthi kuzotholakala amanye azosetshenziswa esikhathini esizayo.
Kulezi zakhi zofuzo, ilebula elibhalwe ukuphosisa okuthi ‘non-protein-coding” ivimba ukutholwa kwezinguquko ezingatholwa ezifana nezinye.
Ngaphezu kwalokho, izichasiselo ezibalulekile ezifana ukuvinjwa kokuphenduka kwemvelo akubaliwe kulezi zakhi zofuzo ngesizathu esifanayo, ukwandisa ukungazi.
Abacwaningi bofuzo bathembela olwazini abaluthole ngofuzo lwabantu, olubizwa nge- “genome assemblies”(ukuhlangana kofuzo), uma befunda ukusebenza kocwaningo emzimbeni.
Abacwaningi abaqhathanise ama-genome assembly abantu asemasha nezinhlobo ezindala bathole umehluko olwazini lofuzo oluthize, okungadala ukuthi ososayensi bangaziboni izinto ezibalulekile ezihlanganisa ufuzo nezifo.
Ososayensi abaningi basasebenzisa inhlanganisa endala ngoba kukhona imininingwane yocwaningo eminingi abangayiqhathanisa nemiphumela yabo, nokuthi ukushintshela enhlanganiseni entsha kumosha isikhathi nemali.
Inkinga ukuthi ama-software amaningi asetshenziwa ilabososayensi ayilunaki ufuzo esilwazi lubalulekile, ngenxa yolwazi oluphelelwe isikhathi.
Umphumela, kungaba ukuthi ososayensi bangangaba nayo imininingwane efanele, uma benza ucwaningo ngofuzo.
Abacwaningi kulolucwaningo bebefuna ukuqonda ukuthi lungakanani ulwazi obelulahleka uma ososayensi besebenzisa inhlanganisa endala, okwatholakala ngo-2013.
Into abebeyinake kakhulu ukuthi ulwazi lofuzo olungakanani olubuyekeziwe enhlanganiseni entsha, nokuthi lolo fuzo lwenzani.
Ukuthola lokho, bahlaziye baqathanisa izinhlanganisa zofuzo ezimbili, bebheka izimo lapho kufakwe khona ulwazi olusha olwengeziwe ngokusebenza kofuzo oluthize.
Babe sebebheka ama-database ezokwelapha nawofuzo ukuze bathole ukuhlangana phakathi kofuzi nezifo.
Abacwaningi bathole amakhulu ofuzo obeselubhalwe kabusha kwi-database entsha.
Iningi lalo zibandakanyeka ekwakheni amaphrotheni emzimbeni.
Amagama asetshenziswa ukukhomba olunye lwalolu fuzo aseshintshile, okwenza kubenzima ukuthi ososayensi baqondanise ulwazi uma besebenza nge-database endala.
Okunye ufuzo olumbalwa lubandakanywa nezifo ezithize, isibonelo ufuzo i-KIZ, uluhlangene ne- retinitis pigmentosa – isifo esingadala ukulahlekelwa ukubona.
Ucwaningolukhombisa ukuthi kubalulekile ukuthi abacwaningi basebenzise ulwazi lofuzo olusha ukuze beqinisekise ukuthi izifo zihlangene nofuzo oluzidalayo, ikakhulukazi uma lolu lwazi lusetshenziswa ukuthola izifo.
Amathuluzi amasha okubuyekeza ulwazi phakathi kzwezihlanganisaezimbili angenza kube lula ukuthi ososayensi badlulisele ulwazi phakathi kwazo esikhathini esizayo.
Lo msebenzi wenziwe ngokuhlanganyela kososayensi base Ningizimu Afrika, Sudan, neJemeni.
Luganda translation of DOI: 10.1101/2020.11.12.380295
Yoruba translation of DOI: 10.1101/2020.11.12.380295
Amharic translation of DOI: 10.1101/2020.11.12.380295
Hausa translation of DOI: 10.1101/2020.11.12.380295
Northern Sotho(Sepedi) translation of DOI: 10.1101/2020.11.12.380295
Creative Commons Attribution 4.0 International License (CC-BY 4.0)
