(Q55005493)

15 June 2018

title

Planning the human variome project: the Spain report. (English)

1 reference

15 June 2018

author

Fahd Al-mulla

7

1 reference

15 June 2018

Arleen D. Auerbach

10

1 reference

15 June 2018

John Burn

17

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15 June 2018

Mariona Bustamante

18

1 reference

15 June 2018

Paul Flicek

35

1 reference

15 June 2018

Maria Golubenko

39

1 reference

15 June 2018

John M. Hancock

42

1 reference

15 June 2018

Ross Hardison

43

1 reference

15 June 2018

Giuditta Perozzi

72

1 reference

15 June 2018

Rajkumar Ramesar

78

1 reference

15 June 2018

Rolf H Sijmons

85

1 reference

15 June 2018

Mauno Vihinen

96

1 reference

15 June 2018

Timothy D Smith

Timothy D Smith

86

0 references

Raymond Dalgleish

Raymond Dalgleish

Vera L Gil-da-Silva-Lopes

28

0 references

Vera L Gil-da-Silva-Lopes

55

0 references

Santos Alonso

Santos Alonso

8

0 references

Maurizio Genuardi

Maurizio Genuardi

37

0 references

Steven E. Brenner

16

Steven E Brenner

1 reference

15 June 2018

41

Ada Hamosh

1 reference

15 June 2018

83

Daniela Seminara

1 reference

15 June 2018

26

Mireille Claustres

1 reference

15 June 2018

59

Steven G E Marsh

1 reference

15 June 2018

91

Jon Teague

1 reference

15 June 2018

63

Mihai G Netea

1 reference

15 June 2018

Anne Cambon-Thomsen

20

Anne Cambon-Thomsen

1 reference

15 June 2018

Melissa L Norton

64

Melissa L Norton

1 reference

15 June 2018

George P Patrinos

71

George P Patrinos

1 reference

15 June 2018

Donna R. Maglott

57

Donna Maglott

1 reference

15 June 2018

Jong Bhak

13

Jong Bhak

1 reference

15 June 2018

Aida I Al Aqeel

5

Aida I Al Aqeel

1 reference

15 June 2018

Finlay Macrae

56

Finlay A Macrae

1 reference

15 June 2018

Makia J Marafie

58

Makia J Marafie

1 reference

15 June 2018

María-Jesús Sobrido

87

María-Jesús Sobrido

1 reference

15 June 2018

Garry R Cutting

27

Garry Cutting

1 reference

15 June 2018

Jim Kaput

1

Jim Kaput

1 reference

15 June 2018

Yoichi Matsubara

60

Yoichi Matsubara

1 reference

15 June 2018

Paola Carrera

22

Paola Carrera

1 reference

15 June 2018

Rosemary Ekong

33

Rosemary Ekong

1 reference

15 June 2018

Mark H. Paalman

69

Mark H Paalman

1 reference

15 June 2018

Ana Maria Oller de Ramirez

68

Ana Maria Oller de Ramirez

1 reference

15 June 2018

Richard G H Cotton

2

1 reference

15 June 2018

Lauren Hardman

3

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15 June 2018

Michael Watson

4

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15 June 2018

Jumana Y Al-Aama

6

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15 June 2018

Stefan Aretz

9

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15 June 2018

Bharati Bapat

11

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15 June 2018

Inge T Bernstein

12

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15 June 2018

Stacey L Bleoo

14

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15 June 2018

Helmut Blöcker

15

1 reference

15 June 2018

Rita Calzone

19

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15 June 2018

Michele Cargill

21

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15 June 2018

Lawrence Cavedon

23

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15 June 2018

Yoon Shin Cho

24

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15 June 2018

Yeun-Jun Chung

25

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15 June 2018

Johan T den Dunnen

29

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15 June 2018

Carlos Díaz

30

1 reference

15 June 2018

Steven Dobrowolski

31

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15 June 2018

M Rosário N dos Santos

32

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15 June 2018

Simon B Flanagan

34

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15 June 2018

Yoichi Furukawa

36

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15 June 2018

Ho Ghang

38

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15 June 2018

Marc S Greenblatt

40

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15 June 2018

Terence M Harrison

44

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15 June 2018

Robert Hoffmann

45

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15 June 2018

Rania Horaitis

46

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15 June 2018

Heather J Howard

47

1 reference

15 June 2018

Carol Isaacson Barash

48

1 reference

15 June 2018

Neskuts Izagirre

49

1 reference

15 June 2018

Jongsun Jung

50

1 reference

15 June 2018

Toshio Kojima

51

1 reference

15 June 2018

Sandrine Laradi

52

1 reference

15 June 2018

Yeon-Su Lee

53

1 reference

15 June 2018

Jong-Young Lee

54

1 reference

15 June 2018

Ludwine M Messiaen

61

1 reference

15 June 2018

Gabriela Möslein

62

1 reference

15 June 2018

Peter J Oefner

65

1 reference

15 June 2018

William S Oetting

66

1 reference

15 June 2018

James C O'Leary

67

1 reference

15 June 2018

Jillian Parboosingh

70

1 reference

15 June 2018

Ian R Phillips

73

1 reference

15 June 2018

Sue Povey

74

1 reference

15 June 2018

Suyash Prasad

75

1 reference

15 June 2018

Ming Qi

76

1 reference

15 June 2018

David J Quin

77

1 reference

15 June 2018

C Sue Richards

79

1 reference

15 June 2018

Judith Savige

80

1 reference

15 June 2018

Dagmar G Scheible

81

1 reference

15 June 2018

Rodney J Scott

82

1 reference

15 June 2018

Elizabeth A Shephard

84

1 reference

15 June 2018

Toshihiro Tanaka

88

1 reference

15 June 2018

Sean V Tavtigian

89

1 reference

15 June 2018

Graham R Taylor

90

1 reference

15 June 2018

Thoralf Töpel

92

1 reference

15 June 2018

Mollie Ullman-Cullere

93

1 reference

15 June 2018

Joji Utsunomiya

94

1 reference

15 June 2018

Henk J van Kranen

95

1 reference

15 June 2018

Elizabeth Webb

97

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15 June 2018

Thomas K Weber

98

1 reference

15 June 2018

Meredith Yeager

99

1 reference

15 June 2018

Young I Yeom

100

1 reference

15 June 2018

Seon-Hee Yim

101

1 reference

15 June 2018

Hyang-Sook Yoo

102

1 reference

15 June 2018

Contributors to the Human Variome Project Planning Meeting

103

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15 June 2018

publication date

1 April 2009

1 reference

15 June 2018

number of pages

15

1 reference

inferred from page(s)

published in

Human Mutation

1 reference

15 June 2018

volume

30

1 reference

15 June 2018

page(s)

496-510

1 reference

15 June 2018

issue

4

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15 June 2018

A new scientific journal linked to a genetic database: towards a novel publication modality

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Personalizing nutrigenomics research through community based participatory research and omics technologies

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

GENETICS. The Human Variome Project

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

The diploid genome sequence of an Asian individual

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Accurate whole human genome sequencing using reversible terminator chemistry

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Assessment of functional effects of unclassified genetic variants

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Prediction and assessment of splicing alterations: implications for clinical testing

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

In silico analysis of missense substitutions using sequence-alignment based methods

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Identification of genetic variants using bar-coded multiplexed sequencing

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

The Population Reference Sample, POPRES: a resource for population, disease, and pharmacological genetics research

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

A wiki for the life sciences where authorship matters

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Towards a cyberinfrastructure for the biological sciences: progress, visions and challenges

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Correlation between genetic and geographic structure in Europe

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Promoting coherent minimum reporting guidelines for biological and biomedical investigations: the MIBBI project

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Worldwide population differentiation at disease-associated SNPs

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

The prevalence of folate-remedial MTHFR enzyme variants in humans

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Tracing biological collections: between books and clinical trials

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Public engagement on global health challenges

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

The complete genome of an individual by massively parallel DNA sequencing

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

'Deep phenotyping': characterizing populations in the era of genomics and systems biology

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Defining the spectrum of alleles that contribute to blood lipid concentrations in humans

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Nutrigenomics research for personalized nutrition and medicine

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Adaptations to climate in candidate genes for common metabolic disorders

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

1H NMR metabonomics approach to the disease continuum of diabetic complications and premature death

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Sharing genetic test results in Lynch syndrome: communication with close and distant relatives

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Discerning the ancestry of European Americans in genetic association studies

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Genetic testing for familial cancer. The French National Report (year 2003).

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Lactose and lactase--who is lactose intolerant and why?

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Identification and analysis of genomic regions with large between-population differentiation in humans

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

The HGNC Database in 2008: a resource for the human genome

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Review article: lactose intolerance in clinical practice--myths and realities.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

A second generation human haplotype map of over 3.1 million SNPs

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

The NCBI dbGaP database of genotypes and phenotypes

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Grand challenges in global health: community engagement in research in developing countries

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Grand challenges in global health: engaging civil society organizations in biomedical research in developing countries

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Diet and the evolution of human amylase gene copy number variation

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

The diploid genome sequence of an individual human

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Newborn screening: experiences in the Middle East and North Africa

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

New perspectives for the elucidation of genetic disorders

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Standards for reporting bioscience data: a forward look

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Two routes to functional adaptation: Tibetan and Andean high-altitude natives

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

New biochemical markers: from bench to bedside

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR).

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Mendelian Inheritance in Man and its online version, OMIM

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

PhenCode: connecting ENCODE data with mutations and phenotype

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

The Cancer Biomedical Informatics Grid (caBIG<sup>TM</sup>).

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Convergent adaptation of human lactase persistence in Africa and Europe

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

A statistical score for assessing the quality of multiple sequence alignments

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Human Variome Project: an international collaboration to catalogue human genetic variation

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

A 60-year tale of spots, maps, and genes

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Screening and risk stratification of patients with the metabolic syndrome and diabetes

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

The case for strategic international alliances to harness nutritional genomics for public and personal health

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Locus-specific databases: from ethical principles to practice

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

How malaria has affected the human genome and what human genetics can teach us about malaria

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

MutDB services: interactive structural analysis of mutation data

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

DNA, diseases and databases: disastrously deficient

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Whole-genome patterns of common DNA variation in three human populations

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Definition and clinical importance of haplotypes

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Genetic variation, classification and 'race'

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Integrating ethics and science in the International HapMap Project

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

The genetic association database

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

The International HapMap Project

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Assessing the impact of biobanks

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Endogamy, consanguinity and community genetics

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

LOINC, a universal standard for identifying laboratory observations: a 5-year update

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Top ten biotechnologies for improving health in developing countries

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

GeneTests-GeneClinics: genetic testing information for a growing audience

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Identification of a variant associated with adult-type hypolactasia

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Using genetic variation to study human disease

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Consanguinity and its relevance to clinical genetics.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Initial sequencing and analysis of the human genome

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

The Sequence of the Human Genome

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

dbSNP: the NCBI database of genetic variation

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

UMD (Universal mutation database): a generic software to build and analyze locus-specific databases

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Genetic disorders in children and young adults: a population study

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Model-based prediction of sequence alignment quality.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Genomic medicine and developing countries: creating a room of their own.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Common sense for our genomes

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databases.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Recommendations of the 2006 Human Variome Project meeting

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Effects of traditional and western environments on prevalence of type 2 diabetes in Pima Indians in Mexico and the U.S.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

RAMEDIS: the rare metabolic diseases database

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Automated splicing mutation analysis by information theory.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Concerns over participation in genetic research among Malay-Muslims, Chinese and Indians in Singapore: a focus group study.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

Nomenclature for the description of human sequence variations.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5879779

McKusick's Online Mendelian Inheritance in Man (OMIM)

13 August 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20972

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20972

Human Gene Mutation Database: towards a comprehensive central mutation database

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20972

Three sequencing companies join the 1000 genomes project

21 January 2018

1 reference

12 December 2020

The Public Population Project in Genomics (P3G): a proof of concept?

1 reference

12 December 2020

Mutations predisposing to hereditary nonpolyposis colorectal cancer: Database and results of a collaborative study. The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer

1 reference

12 December 2020

1 reference

12 December 2020

Use of a disease severity index for evaluation of healthcare costs and management of comorbidities of patients with diabetes mellitus

1 reference

12 December 2020

Harnessing genomics and biotechnology to improve global health equity

1 reference

12 December 2020

A database of locus-specific databases

1 reference

12 December 2020

Gene-Environment Interactions: Defining the Playfield

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20972

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1002/HUMU.20972

1 reference

15 June 2018

PMCID

5879779

1 reference

15 June 2018

PubMed ID

19306394

1 reference

15 June 2018