Brief. Bioinformatics - Bioinformatics for personal genome interpretation.

Tópicos

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{ research(1085) discuss(1038) issu(1018) }
{ data(1714) softwar(1251) tool(1186) }
{ data(3963) clinic(1234) research(1004) }
{ research(1218) medic(880) student(794) }
{ model(3404) distribut(989) bayesian(671) }
{ sequenc(1873) structur(1644) protein(1328) }
{ howev(809) still(633) remain(590) }
{ studi(1119) effect(1106) posit(819) }
{ analysi(2126) use(1163) compon(1037) }
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{ age(1611) year(1155) adult(843) }
{ can(981) present(881) function(850) }
{ health(1844) social(1437) communiti(874) }
{ drug(1928) target(777) effect(648) }
{ system(1976) rule(880) can(841) }
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{ bind(1733) structur(1185) ligand(1036) }
{ error(1145) method(1030) estim(1020) }
{ search(2224) databas(1162) retriev(909) }
{ risk(3053) factor(974) diseas(938) }
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{ care(1570) inform(1187) nurs(1089) }
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{ method(984) reconstruct(947) comput(926) }
{ featur(1941) imag(1645) propos(1176) }
{ case(1353) use(1143) diagnosi(1136) }
{ studi(1410) differ(1259) use(1210) }
{ perform(999) metric(946) measur(919) }
{ import(1318) role(1303) understand(862) }
{ visual(1396) interact(850) tool(830) }
{ compound(1573) activ(1297) structur(1058) }
{ blood(1257) pressur(1144) flow(957) }
{ record(1888) medic(1808) patient(1693) }
{ health(3367) inform(1360) care(1135) }
{ model(3480) simul(1196) paramet(876) }
{ monitor(1329) mobil(1314) devic(1160) }
{ ehr(2073) health(1662) electron(1139) }
{ state(1844) use(1261) util(961) }
{ patient(2837) hospit(1953) medic(668) }
{ data(2317) use(1299) case(1017) }
{ medic(1828) order(1363) alert(1069) }
{ group(2977) signific(1463) compar(1072) }
{ sampl(1606) size(1419) use(1276) }
{ data(3008) multipl(1320) sourc(1022) }
{ activ(1138) subject(705) human(624) }
{ patient(1821) servic(1111) care(1106) }
{ use(2086) technolog(871) perceiv(783) }
{ structur(1116) can(940) graph(676) }
{ high(1669) rate(1365) level(1280) }
{ cancer(2502) breast(956) screen(824) }
{ result(1111) use(1088) new(759) }
{ implement(1333) system(1263) develop(1122) }
{ estim(2440) model(1874) function(577) }
{ decis(3086) make(1611) patient(1517) }
{ process(1125) use(805) approach(778) }
{ activ(1452) weight(1219) physic(1104) }
{ method(1969) cluster(1462) data(1082) }
{ detect(2391) sensit(1101) algorithm(908) }

Resumo

An international consortium released the first draft sequence of the human genome 10 years ago. Although the analysis of this data has suggested the genetic underpinnings of many diseases, we have not yet been able to fully quantify the relationship between genotype and phenotype. Thus, a major current effort of the scientific community focuses on evaluating individual predispositions to specific phenotypic traits given their genetic backgrounds. Many resources aim to identify and annotate the specific genes responsible for the observed phenotypes. Some of these use intra-species genetic variability as a means for better understanding this relationship. In addition, several online resources are now dedicated to collecting single nucleotide variants and other types of variants, and annotating their functional effects and associations with phenotypic traits. This information has enabled researchers to develop bioinformatics tools to analyze the rapidly increasing amount of newly extracted variation data and to predict the effect of uncharacterized variants. In this work, we review the most important developments in the field--the databases and bioinformatics tools that will be of utmost importance in our concerted effort to interpret the human variome.

Resumo Limpo

intern consortium releas first draft sequenc human genom year ago although analysi data suggest genet underpin mani diseas yet abl fulli quantifi relationship genotyp phenotyp thus major current effort scientif communiti focus evalu individu predisposit specif phenotyp trait given genet background mani resourc aim identifi annot specif gene respons observ phenotyp use intraspeci genet variabl mean better understand relationship addit sever onlin resourc now dedic collect singl nucleotid variant type variant annot function effect associ phenotyp trait inform enabl research develop bioinformat tool analyz rapid increas amount newli extract variat data predict effect uncharacter variant work review import develop fieldth databas bioinformat tool will utmost import concert effort interpret human variom

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