(Q45207504)

10 December 2017

title

Human Variome Project country nodes: documenting genetic information within a country (English)

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10 December 2017

Timothy D Smith

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Feliciano J Ramos

Feliciano J Ramos

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Bin Alwi Zilfalil

Bin Alwi Zilfalil

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Augusto Rojas-Martinez

Augusto Rojas-Martinez

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Lynn Jorde

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Lynn Jorde

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David Rimoin

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George P Patrinos

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Milan Macek

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Makia Marafie

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María-Jesús Sobrido

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Garry R Cutting

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Jim Kaput

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Yoichi Matsubara

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Heather Howard

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Lotfi Chouchane

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Andreas Hadjisavvas

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Xi-Tao Li

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Thomy de Ravel

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Mona O El-Ruby

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Mona O El-Ruby

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Tilak Ram Shrestha

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Martina Witsch-Baumgartner

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Kevin Carpenter

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Vu Chi Dung

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Wayne Grody

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Julia Hasler

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Carmancita Padilla

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Helen Robinson

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Graham R Taylor

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Tom Weber

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Ming Qi

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Richard G H Cotton

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International Confederation of Countries Advisory Council

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10 December 2017

publication date

18 July 2012

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10 December 2017

volume

33

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10 December 2017

issue

11

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10 December 2017

page(s)

1513-1519

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Initiating a Human Variome Project Country Node.

10 December 2017

cites work

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https://api.crossref.org/works/10.1002%2FHUMU.22147

Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project

21 January 2018

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Recommendations of the 2006 Human Variome Project meeting

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22147

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22147

FINDbase: a worldwide database for genetic variation allele frequencies updated

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22147

Estimating the allele frequency of autosomal recessive disorders through mutational records and consanguinity: the Homozygosity Index (HI).

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22147

Planning the human variome project: the Spain report.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22147

The cypriot and Iranian National Mutation Frequency Databases.

21 January 2018

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How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.

21 January 2018

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Novel LOVD databases for hereditary breast cancer and colorectal cancer genes in the Chinese population

21 January 2018

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Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22147

General considerations for integrating pharmacogenomics into mainstream medical practice

21 January 2018

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Hellenic National Mutation database: a prototype database for mutations leading to inherited disorders in the Hellenic population.

21 January 2018

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Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22147

Large-scale population genetic analysis for hemoglobinopathies reveals different mutation spectra in central Greece compared to the rest of the country

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22147

CTGA: the database for genetic disorders in Arab populations

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22147

Consanguinity and reproductive health among Arabs

21 January 2018

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ETHNOS : A versatile electronic tool for the development and curation of national genetic databases

21 January 2018

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Guidelines for establishing locus specific databases.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22147

An informatics project and online "Knowledge Centre" supporting modern genotype-to-phenotype research

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22147

21 January 2018

LQTS gene LOVD database

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22147

Documentation of inherited disorders and mutation frequencies in the different religious communities in Israel in the Israeli National Genetic Database

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22147

Curating gene variant databases (LSDBs): toward a universal standard

21 January 2018

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Population-specific documentation of pharmacogenomic markers and their allelic frequencies in FINDbase

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22147

A critical view of the general public’s awareness and physicians’ opinion of the trends and potential pitfalls of genetic testing in Greece

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22147

Collaborative genomics for human health and cooperation in the Mediterranean region

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22147

Ascertainment and critical assessment of the views of the general public and healthcare professionals on nutrigenomics in Greece

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22147

Critical appraisal of the private genetic and pharmacogenomic testing environment in Greece

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22147

Impact of 226C>T MSH2 gene mutation on cancer phenotypes in two HNPCC-associated highly-consanguineous families from Kuwait: emphasis on premarital genetic testing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22147

National and ethnic mutation databases: recording populations' genography

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22147

Mutation (variation) databases and registries: a rationale for coordination of efforts

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22147

7 January 2021

Relevance of pharmacogenomics for developing countries in Europe

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https://api.crossref.org/works/10.1002%2FHUMU.22147

7 January 2021

Region-specific genetic heterogeneity of HBB mutation distribution in South-Western Greece

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https://api.crossref.org/works/10.1002%2FHUMU.22147

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.22147

7 January 2021

Population-ethnic group specific genome variation allele frequency data: a querying and visualization journey

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https://api.crossref.org/works/10.1002%2FHUMU.22147

7 January 2021

Identifiers

DOI

10.1002/HUMU.22147

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10 December 2017

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