ライフサイエンスコーパス: clinical genetics

1 ne and will soon be a staple in research and clinical genetics.

2 olely for medical reasons, by specialists in clinical genetics.

3 limitations of use of ethical guidelines in clinical genetics.

4 d concern about the ethical issues raised by clinical genetics.

5 cation in human genomics and the practice of clinical genetics.

6 nd is currently implemented and validated in clinical genetics.

7 on DNA sequence, which are commonly used in Clinical Genetics.

8 hanisms underlying phenotypic plasticity and clinical genetics.

9 to inform predictor choice for personal and clinical genetics.

10 broad utility for human disease research and clinical genetics.

11 h each child having a mean of 19 tests and 4 clinical genetics and 4 nongenetics specialist consultat

12 immune diseases has been established through clinical genetics and gene knock out studies in mice.

13 profile will provide information relevant to clinical genetics and genetic counseling and should yiel

14 Our findings have important applications for clinical genetics and genetic counseling.

15 es a broadly applicable reference cohort for clinical genetics and genomic association studies, and f

16 Clinical genetics and genomics will exert their greatest

17 Clinical genetics and humanized mouse models suggest tha

18 aluate gene essentiality has applications in clinical genetics and may offer insights for drug develo

19 ty, serving as a resource for the chromatin, clinical genetics and neurodevelopment communities.

20 PURPOSE OF REVIEW: The fields of clinical genetics and pharmacogenetics are rapidly expan

21 monization of REA data collection and use in clinical genetics and precision health research.

22 t, can subsequently be shared with the wider clinical genetics and research communities.

23 ts a novel attempt to bridge the gap between clinical genetics and the underlying chemical physics.

24 The focus of clinical genetics, and thus genetic counselling, is fore

25 t, but these would all be missed in standard clinical genetics approaches.

26 ES) represents a significant breakthrough in clinical genetics as a powerful tool for etiological dis

27 by selection statistics, multiple GWAS, and clinical genetics as important to function and fitness.

28 Improved understanding of the molecular and clinical genetics associated with these lesions will lik

29 netic alterations are frequently observed in Clinical Genetics, but the high yield of variants of unc

30 CNV/aneuploidy detection with application to clinical genetics, cancer and disease association studie

31 tients with breast cancer from familial- and clinical genetics center-based studies were 0.5%, 1.3%,

32 d tested for germline BRCA1/BRCA2 PVs in NHS Clinical Genetics centers in England between 1995 and 20

33 received counseling at 1 of 12 participating clinical genetics centers.

34 on of such variants represents a significant clinical-genetics challenge.

35 collaboration with paediatric neurology and clinical genetics colleagues across Europe (Czechia, Fra

36 lable, providing a valuable resource for the clinical genetics community to discover pathogenic SVs.

37 ents one of the main challenges faced by the clinical genetics community today.

38 d thereby invite a broader discussion in the clinical genetics community.

39 ssociated with HCC after full correction for clinical/genetics covariates and age (OR: 2.45, 1.35 -4.

40 p53 variants remain un- or mis-classified in clinical genetics databases.

41 er centers of 86 adult patients referred for clinical genetics evaluation after diagnosis of SN.

42 Clinical genetics evaluation is warranted for patients w

43 thogenic CNVs were noted to be dysmorphic on clinical genetics examination.

44 (NGS) in all branches of basic research and clinical genetics fields means that users with highly va

45 association studies, copy-number variation, clinical genetics findings, and cancer data.

46 In the field of clinical genetics for rare diseases, a resulting reducti

47 paediatric and adult nephrology, urology and clinical genetics from the European Rare Kidney Disease

48 By combining clinical genetics, functional expression assays, and pop

49 siderable value to phenotypic evaluations in clinical genetics, genetic testing, research and precisi

50 A new tutorial focusing on Clinical Genetics has also been added to the UCSC Genome

51 A long-standing goal in protein science and clinical genetics is to develop quantitative models of s

52 One of the most perplexing questions in clinical genetics is why patients with identical gene mu

53 nical impact on the diagnostic capability of clinical genetics laboratories.

54 e-exome sequencing tests were performed at a clinical genetics laboratory in the United States.

55 more frequently used based on review of the clinical genetics literature (2011-2017).

56 f this new cytogenetic test in areas outside clinical genetics may help to determine which patients w

57 sed of internationally recognized experts in clinical genetics, molecular biology, and variant interp

58 The molecular and clinical genetics of familial GEP NETs have been further

59 asingly undertaken by specialists outside of clinical genetics, often occurring in a tiered fashion a

60 Patients at the clinical genetics or gynecology department between the a

61 iduals screened by breakpoint PCR and 13 096 Clinical Genetics patients with a range of other inherit

62 elines for collecting and using such data in clinical genetics practice.

63 Surveying clinical genetics professionals and researchers (n = 448

64 eight of these variants, discuss the role of clinical genetics providers in patient care, and put for

65 Although clinical genetics recognizes the value of early identifi

66 and recommends its adoption as a standard in clinical genetics, replacing Southern blot and PCR-based

67 prospectively offered genetic counseling and clinical genetics risk assessment (group 1).

68 age younger than 50 years, evaluated by the clinical genetics service at a single tertiary care canc

69 Working with the NHS Clinical Genetics service, which provided genetic counse

70 -control study and 14 were identified from a clinical genetics service.

71 cost sharing should contribute to improving clinical genetics services and associated outcomes in th

72 bulatory outpatient clinics of the Victorian Clinical Genetics Services at the Royal Children's Hospi

73 These findings demonstrate important gaps in clinical genetics services.

74 In a general clinical genetics setting, the current diagnostic rate i

75 sly known 4p16.3 locus, and experimental and clinical genetics studies have shown both FGFRL1 and hsa

76 dyskeratosis congenita (DC), on the basis of clinical genetics studies, for their effects on the dysk

77 Evidence from model organisms and clinical genetics suggests coordination between the deve

78 vidual research participants via their local clinical genetics team.

79 In addition, with emerging high-resolution clinical genetics testing, new polymorphisms must be ana

80 xt generation sequencing gains a foothold in clinical genetics, there is a need for annotation tools

81 ring a spectrum of approaches from human and clinical genetics to the utilization of model organism s

82 ure of reproductive biology: how advances in clinical genetics will provide special opportunities to

83 lications is one of the major bottlenecks in clinical genetics, with the inference of the effect of a

84 Oncologic treatment and outcomes as well as clinical genetics work-up were examined.