ライフサイエンスコーパス: human genetics

1 nformation they can convey in the context of human genetics.

2 biomedical research, stem cell biology, and human genetics.

3 cing (WGS) data have ushered in a new era in human genetics.

4 s essential for a variety of applications in human genetics.

5 gions in the human genome is a major goal in human genetics.

6 cations for evolution, applied breeding, and human genetics.

7 icacy, but little is known about the role of human genetics.

8 f noncoding variants is a major challenge in human genetics.

9 greatly contributed to our understanding of human genetics.

10 of several new genes and genetic factors in human genetics.

11 , past and present, of this facile system to human genetics.

12 us genetic variation is a major challenge in human genetics.

13 ant and animal breeding, and increasingly in human genetics.

14 n is a fundamental question in evolution and human genetics.

15 lays a significant role in various fields of human genetics.

16 ng is becoming the primary discovery tool in human genetics.

17 atopoietic system, as evidenced by mouse and human genetics.

18 that will deliver mechanistic insights from human genetics.

19 breeding and is also receiving attention in human genetics.

20 disease; their exploration is a frontier in human genetics.

21 iety of America and the American Society for Human Genetics.

22 ses provide clues to the future direction of human genetics.

23 ecting phenotype pose a unique challenge for human genetics.

24 ields such as cancer biology, evolution, and human genetics.

25 tics and may directly facilitate progress in human genetics.

26 amed microRNAs, has changed the landscape of human genetics.

27 plicability of studies of canine behavior to human genetics.

28 mained an unanswered fundamental question in human genetics.

29 patients remains a significant challenge in human genetics.

30 umerous applications in empirical studies of human genetics.

31 o help to revolutionize our understanding of human genetics.

32 imal and plant breeding, and increasingly in human genetics.

33 for analyzing polygenic traits as an aid in human genetics.

34 neous solution may be useful in the field of human genetics.

35 ward portal to the burgeoning information in human genetics.

36 1989 represents a landmark accomplishment in human genetics.

37 known routes of neurotoxicant metabolism and human genetics.

38 n therapy on cancer risk using evidence from human genetics.

39 locus (QTL) represents a major challenge in human genetics.

40 torial disease genes is a major challenge in human genetics.

41 Canadian members of the American Society of Human Genetics.

42 hes conditions for the application of GMS to human genetics.

43 nheritance), has been a focus of interest in human genetics.

44 ng techniques have driven recent progress in human genetics.

45 ng the tools of modern molecular biology and human genetics.

46 place GRCh38 as the prevailing reference for human genetics.

47 ndividuals have emerged as a key resource in human genetics.

48 y, revealing the limited predictive power of human genetics.

49 nary biology, evolutionary anthropology, and human genetics.

50 (2020), published in The American Journal of Human Genetics.

51 common practice in evolutionary biology and human genetics.

52 f the most exciting and fast-moving areas in human genetics.

53 tool in the study of population structure in human genetics.

54 tween the extracted microbial metabolite and human genetics.

55 cell fate decisions but are often ignored in human genetics.

56 troke both observationally and causally from human genetics.

57 variants on splicing is highly relevant for human genetics.

58 mic stroke observationally and causally from human genetics.

59 ures which are informative for understanding human genetics.

60 e to Mendelian disease is a major unknown in human genetics.

61 ed in the etiology of Alzheimer's disease by human genetics.

62 s been a long-standing goal in mammalian and human genetics.

63 ific fate mapping, single-cell genomics, and human genetics adds novel insights into the complexity o

64 From preclinical models and human genetics, an inhibitor of FXIa has the potential t

65 Taken together, these data from human genetics and animal models support a role for PDGF

66 nomic ancestry remains an important topic in human genetics and bioinformatics.

67 In summary, using a combination of human genetics and cardiac model systems, we identified

68 tential to both improve our understanding of human genetics and cure genetic disease.

69 ransmitted chromosomes, the implications for human genetics and disease are potentially considerable.

70 roaches based on a combination of compelling human genetics and emerging preclinical data.

71 s of emphasis in ASD research, starting from human genetics and exploring how mouse models of human m

72 Human genetics and failed clinical trials have created s

73 development of transformative approaches in human genetics and functional genomics.

74 Thus, integrating human genetics and functional testing in neuronal lineag

75 The findings have important implications for human genetics and genome evolution.

76 This review summarizes the human genetics and genomic approaches that have shed lig

77 ty engagement uniquely offers researchers in human genetics and genomics an opportunity to pursue tha

78 rs, both conventional and ancestry based, in human genetics and genomics have offered guidance on usi

79 An important goal of human genetics and genomics is to understand the complet

80 this dire need, specifically in the area of human genetics and genomics, but knock-on effects are en

81 tudies (GWASs) have transformed the field of human genetics and have led to the discovery of hundreds

82 njunction more personally meaningful than in human genetics and medicine.

83 o disease phenotypes is a major challenge in human genetics and medicine.

84 ateral sclerosis has emerged from studies of human genetics and mouse models.

85 understanding of ASD from the standpoint of human genetics and neuropathology.

86 Studies of human genetics and pathophysiology have implicated the r

87 d by profound disparities between animal and human genetics and physiology.

88 tion is a key focus of evolutionary biology, human genetics and plant breeding.

89 Given the rise in public interest in human genetics and precision medicine, direct-to-consume

90 Fields as diverse as human genetics and sociology are increasingly using poly

91 Human genetics and stem cell biology have advanced neuro

92 -range position effect found in the field of human genetics and the first report of a patient with CD

93 nderstanding the complex interaction between human genetics and the microbiome in the context of huma

94 se findings recapitulate certain features of human genetics and therefore establish a novel cell cult

95 c risk prediction is an important problem in human genetics, and accurate prediction can facilitate d

96 nt articles, founded on preclinical studies, human genetics, and clinical outcomes.

97 Recent advances in molecular biology, human genetics, and functional genomics tremendously inc

98 level genomic ancestry are routinely used in human genetics, and related fields.

99 The combination of human genetics, animal models, and induced pluripotent s

100 Rs in neurocognition using animal models and human genetics approaches.

101 Study sample sizes in human genetics are growing rapidly, and in due course it

102 Advances in human genetics are improving the understanding of a vari

103 Advances in human genetics are leading to the discovery of new disea

104 Approaches based on human genetics are limited in scope to common variants a

105 Advances in human genetics are shedding light on the genetic archite

106 ation, especially those with applications to human genetics, are not well developed.

107 will be an important test of the utility of human genetics as a starting point for drug discovery in

108 Here we use human genetics as an approach to identify an angiogenic

109 n genomes, bringing even deeper insight into human genetics as well as the genetics of millions of ot

110 llitus (T1D) onset is mediated by individual human genetics as well as undefined environmental influe

111 his white paper from the American Society of Human Genetics (ASHG) Ancestry and Ancestry Testing Task

112 In 1995, the American Society of Human Genetics (ASHG) and American College of Medical Ge

113 or at the meeting of the American Society of Human Genetics (ASHG) on October 18, 2018, in San Diego,

114 To respond, an American Society of Human Genetics (ASHG) workgroup developed this position

115 To respond, an American Society of Human Genetics (ASHG) workgroup developed this position

116 ase, scientists from the American Society of Human Genetics (ASHG), the Genetics Society of America (

117 creative essay as a novel tool for teaching human genetics at the college level.

118 Ps) have been the focus of much attention in human genetics because they are extremely abundant and w

119 bolism is being elucidated through mouse and human genetics, biochemistry, and cell biology.

120 s and in human tissue, thanks to advances in human genetics, brain imaging and tissue collection.

121 productive Medicine, Asia Pacific Society of Human Genetics, British Society for Genetic Medicine, Hu

122 in particular, summarizes recent findings in human genetics broadly that are driving the reevaluation

123 source for a large number of applications in human genetics, but computationally inferred haplotypes

124 ion of rare variants is an important goal of human genetics, but resequencing of a sample large enoug

125 ies have provided an invaluable baseline for human genetics, but with an estimated two thousand ethno

126 logies promise to revolutionize the field of human genetics by enabling comprehensive studies that in

127 Human genetics can help advance the therapeutic enterpri

128 tes bioinformatics, clinical evaluation, and human genetics can help to address these challenges.

129 (e.g., the NF-kappaB signaling pathway), and human genetics can subset disease into clinically meanin

130 These examples demonstrate the ways in which human genetics can validate candidate genes, as well as

131 tions: Genetic Alliance, European Society of Human Genetics, Canadian Association of Genetic Counsell

132 ses from the National Eye Institute Glaucoma Human Genetics Collaboration (NEIGHBOR) consortium.

133 ata from the National Eye Institute Glaucoma Human Genetics Collaboration Heritable Overall Operation

134 rect advantages for the disease-modeling and human genetics communities.

135 The human genetics community needs robust protocols that ena

136 orically received prominent attention in the human genetics community, primarily related to the searc

137 laying an increasingly important role in the human genetics community.

138 Advances in human genetics, coupled with experimental modeling in gy

139 Using human genetics data and postmortem gene expression data,

140 Human genetics data point to a key role for microglia in

141 nt in vivo functional evidence together with human genetics data strongly suggest that mutations in a

142 rtantly, superimposition of these results to human genetics data suggests a previously underappreciat

143 Consistent with our human genetics data, suppression of the exon 41 ortholog

144 e Online Mendelian Inheritance in Man (OMIM) human genetics database and other protein databases for

145 The three-way interactions between human genetics, diet, and the microbiota fundamentally s

146 e value of our data as a resource to empower human genetics discovery across broad geographic regions

147 ublished recently in Cell bring the power of human genetics, Drosophila genetics, and genomics to bea

148 Paralleling the major advances in human genetics during recent decades, we have come to un

149 pairwise kinship is an important problem in human genetics (e.g. in disease mapping) and in animal a

150 at we believe must be addressed to translate human genetics efficiently into new therapeutics for bra

151 reduce these disparities, current efforts in human genetics emphasize the inclusion of diverse popula

152 rs in Asia, and Southern African Society for Human Genetics, endorsed the final statement.

153 tical, epidemiological, and quantitative and human genetics fields.

154 Here, we review the human genetics findings coalescing on molecular mechanis

155 lted in lower proliferation, consistent with human genetics findings.

156 Few GWAS hits in human genetics for neuropsychiatric disorders to date ha

157 tor creates a direct phenotypic link between human genetics (G versus A alleles cause Cys529 versus T

158 in sperm may have widespread applications in human genetics, genetic toxicology, and reproductive med

159 onsidered in the context of other aspects of human genetics, gut bacterial genetics, and environmenta

160 Although the application of human genetics has been explored primarily as a method t

161 Human genetics has been haunted by the mystery of "missi

162 Human genetics has indicated a causal role for the prote

163 We also discuss how progress in human genetics has led to the generation of mouse models

164 Human genetics has seen a surge of interest in genetic v

165 The combination of mouse and human genetics has the potential to identify and validat

166 Meanwhile, the field of human genetics has undergone a series of rapid transitio

167 ical, and social implications of research in human genetics have been discussed in depth, particularl

168 Tremendous advances in human genetics have been made in recent years, as the fr

169 Human genetics have been used to recently 'validate' gen

170 r with genetically modified mouse models and human genetics have confirmed the importance of ion chan

171 Advances in human genetics have dramatically expanded our understand

172 Recent advances in human genetics have identified dominant mutations in the

173 Advances in human genetics have implicated a growing number of genes

174 Human genetics have implicated the 5-lipoxygenase enzyme

175 families and explore how mouse genetics and human genetics have intersected to advance our knowledge

176 acterial molecular genetics, immunology, and human genetics have yielded insight into the molecular d

177 examples of genetically modified food and of human genetics help to illustrate the issues involved.

178 isting bioinformatics structures relevant to human genetics, HGMD has established itself as the centr

179 Further investigation of human genetics identified a human developmental disease

180 Furthermore, human genetics implicate BACH2 in multiple sclerosis.

181 approaches inform disease biology by placing human genetics in a molecular systems and neurobiologica

182 The role of human genetics in determining clinical response to the v

183 s of gHAT epidemics and evidence implicating human genetics in HAT epidemiology.

184 f host-pathogen interactions and the role of human genetics in influencing the outcome of infections.

185 The focus of human genetics in recent years has shifted toward identi

186 Africa but little is known about the role of human genetics in susceptibility.

187 osis, have not previously been implicated by human genetics in the molecular mechanisms of this pheno

188 g radiation has been a long-standing goal of human genetics in the past 50 years.

189 These results reveal a new mechanism in human genetics, in which a disease predisposition mutati

190 t stem cell-derived microglia, which enables human genetics, including gene function and therapeutic

191 manipulation of DDR pathways highlighted by human genetics increases fertility and extends reproduct

192 Support from human genetics increases the probability of success in d

193 Understanding how human genetics influence infectious disease susceptibili

194 udies on Mental Disorders, also known as the Human Genetics Initiative (HGI).

195 s in the National Institute of Mental Health Human Genetics Initiative linkage samples for bipolar di

196 from the National Institute of Mental Health Human Genetics Initiative Repository, and the Prechter R

197 be an approach to translate discoveries from human genetics into functional and therapeutic hypothese

198 Human genetics is a rational starting point for target i

199 Another challenge in human genetics is functional evaluation of rare genetic

200 A major question in human genetics is how sequence variants of broadly expre

201 ains more than 1,000 different proteins, and human genetics is identifying new ciliopathy genes at an

202 A major challenge in human genetics is identifying the molecular basis of com

203 Human genetics is now at a critical juncture.

204 A major challenge in human genetics is pinpointing which non-coding genetic v

205 An important question in human genetics is the extent to which genes causing mono

206 Currently, a major focus of human genetics is the utilization of single-nucleotide p

207 A major interest in human genetics is to determine whether a nonsynonymous s

208 A major challenge in human genetics is to devise a systematic strategy to int

209 One of the central goals of human genetics is to discover the genes and pathways dri

210 A primary goal of human genetics is to identify DNA sequence variants that

211 ajor focus of current sequencing studies for human genetics is to identify rare variants associated w

212 A major challenge in human genetics is to identify the molecular mechanisms o

213 al of whole-genome sequencing for studies of human genetics is to interrogate all forms of variation,

214 A major focus of human genetics is to map severe disease mutations.

215 ide association studies, a critical focus of human genetics is to understand how genetic variation at

216 One goal of human genetics is to understand the genetic basis of dis

217 A key challenge in human genetics is to understand the geographic distribut

218 The central goal of human genetics is to understand the inherited basis of h

219 A major goal in human genetics is to understand the role of common genet

220 A major goal in human genetics is to use natural variation to understand

221 One of the major questions in human genetics is what percentage of individuals in the

222 ide polymorphisms (SNPs), a central issue in human genetics is whether it is now possible to use link

223 netic modifications or regulators, and these human genetics lessons have demonstrated the importance

224 tion studies is difficult and, especially in human genetics, likely to result in underestimating the

225 power for the sample sizes commonly used in human genetics linkage studies, minor QTL effects often

226 We have also surveyed the human genetics literature for associations to disease ca

227 junction with the annual American Society of Human Genetics meeting, participants explored new approa

228 an annual dinner at the American Society of Human Genetics meetings.

229 in the past few years, and a new chapter of human genetics, "mitochondrial genetics," has opened up

230 Despite recent advances in human genetics, model organisms are indispensable for hu

231 Besides human genetics, model organisms such as Drosophila have

232 l efficiency, and mRNA stability, studies in human genetics, mutagenesis screens, and other experimen

233 Advancements in human genetics now poise the field to illuminate the pat

234 elopments that have occurred in the field of human genetics of infectious diseases from the second ha

235 Here I review the history of the field of human genetics of infectious diseases from the turn of t

236 The human genetics of left ventricular noncompaction cardiom

237 Human genetics offers new possibilities for understandin

238 roving the ability to quantify the effect of human genetics on the microbiome through improved herita

239 Beyond human genetics, our approach can be applied to plant and

240 aordinary technical advances in the field of human genetics over the past few years have catalyzed an

241 The remarkable achievements in human genetics over the years have been due to technolog

242 ADPKD) from paediatric and adult nephrology, human genetics, paediatric radiology and ethics specialt

243 Studies of human genetics, particularly genome-wide association stu

244 d relationships between clinical parameters, human genetics, pharmacokinetics, and human immunodefici

245 Human genetics point to three additional TRP channels as

246 the relevant entries in online databases for human genetics, protein and nucleic acid sequence data a

247 Recently, human genetics provided a new paradigm linking aging, in

248 as reference genome sequences revolutionized human genetics, reference maps of interactome networks w

249 Although human genetics regulates microbiome composition, its inf

250 etic risk prediction is an important goal in human genetics research and precision medicine.

251 One concern in human genetics research is maintaining the privacy of st

252 the major tasks associated with contemporary human genetics research.

253 ons is an essential yet challenging topic in human genetics research.

254 ome sequencing (WES) has been widely used in human genetics research.

255 integration of findings from mouse models to human genetics resulted in considerable progress toward

256 some societal and legal ramifications of the human genetics revolution.

257 otic cell death; and they also contribute to human genetics since mitochondria have a functional geno

258 gists, Canadian College of Medical Genetics, Human Genetics Society of Australasia, and National Soci

259 etics, British Society for Genetic Medicine, Human Genetics Society of Australasia, Professional Soci

260 These human genetics studies and recent in utero animal modeli

261 Large-scale human genetics studies are now employing whole genome se

262 Large-scale human genetics studies have begun to reveal molecular pa

263 Human genetics studies have linked LRRK2 as a major gene

264 ssociate or are frozen, and opens the way to human genetics studies, clinical trials, and precise cel

265 Despite two decades of mouse immunology and human genetics studies, the pathogenesis of Crohn's dise

266 ools will help enable the next generation of human genetics studies.

267 Recent human-genetics studies have come to different conclusion

268 me architecture is one of the most important human genetics study areas.

269 ominantly European ancestry in the DiscovEHR human genetics study.

270 on studies (GWASs), fundamental questions in human genetics, such as the extent of pleiotropy across

271 tion, evidence from model organisms and from human genetics suggests that cohesin is involved in the

272 This paper highlights changes in human genetics that support a curricular reorganization,

273 id the foundation for profound insights into human genetics, the intricacies of regulation and develo

274 the recent increase in study sample sizes in human genetics, there has been growing interest in infer

275 Human genetics thus identifies TRAIP as a component of t

276 a model disease in the context of leveraging human genetics to dissect interactions in cellular and m

277 tion, including a range of approaches to use human genetics to inform drug discovery and make better

278 Here, we summarize a strategy for applying human genetics to neuroscience drug discovery.

279 y, a confluence of discoveries in areas from human genetics to physiology, cell biology, and biophysi

280 he symptoms of RA highlights the promises of human genetics to provide insights in the disease biolog

281 sease models are converging with advances in human genetics to shed new light on puzzling clinical ph

282 One of the grand challenges of human genetics to systematically map by gene-association

283 the power of linking proteomic networks and human genetics to uncover critical disease pathways.

284 summarizes recent developments in the use of human genetics to validate candidate genes in lipoprotei

285 ts remains one of the greatest challenges in human genetics today.

286 most common genetic aberrations observed in human genetics today.

287 cer Research UK, UK Medical Research Council Human Genetics Unit Centre, DJ Fielding Medical Research

288 Modeling human genetics using a high-throughput pluripotent stem

289 Obesity from human genetics was causally associated with higher risk

290 l dataset from the Wellcome Trust Centre for Human Genetics, we both recapitulate previous findings a

291 ion of women and men at academic meetings in human genetics, we developed high-throughput and crowd-s

292 olutionary history, protein localization and human genetics, we have identified a conserved mitochond

293 th growing evidence from transgenic mice and human genetics, we propose that Abeta40 plays a critical

294 ussed is available in Mendel 9.0 at the UCLA Human Genetics web site.

295 e most essential and fundamental concepts of human genetics were first decoded in the fly.

296 tral to the scientific and clinical goals of human genetics, which are to understand disease aetiolog

297 c phases of associative learning we combined human genetics with experimental gene expression studies

298 In this study, we coupled human genetics with functional validation in zebrafish a

299 Combining knowledge of human genetics with precise genome editing to insert nat

300 study analysis paradigm that has transformed human genetics, X-wide association studies or "XWAS" hav