hvp6.variome.org
The 6th Biennial Meeting of the Human Variome Project Consortium
http://hvp6.variome.org/sponsor
The 6th Biennial Meeting of the Human Variome Project Consortium. Wednesday, 1 June 2016 to. Friday, 3 June 2016 from. 9:00 AM - 1:00 PM. UNESCO Headquarters, Paris, France. The 6th Biennial Meeting of the Human Variome Project Consortium. Wednesday, 1 June 2016 to. Friday, 3 June 2016 from. 9:00 AM - 1:00 PM. UNESCO Headquarters, Paris, France. American College of Medical Genetics and Genomics. Sponsorship of the GG2020 meeting. These are the three guiding pillars of the Strategic Plan. The mission of t...
lrg-sequence.org
FAQ | Locus Reference Genomic
http://www.lrg-sequence.org/faq
Skip to Main Content Area. Eg LRG 1, COL1A1, NM 000088.3. A LRG webinar is available on Youtube. This webinar provides you with an overview and demo of the Locus Reference Genomic (LRG). Resource - a manually curated reference resource for the reporting of clinically relevant variants. The webinar and its PowerPoint presentation are available on the LRG page of the EMBL-EBI Online training. LRG Frequently Asked Questions (FAQs). The most frequently asked FAQs. What is an LRG? Why do we need LRGs? I have ...
x-ald.nl
Multiple mutations « X-linked Adrenoleukodystrophy database
http://www.x-ald.nl/mutations-gene/multiple-mutations
April 7th, 2016. Multiple DNA changes found in one allele. C[38A C, 649A G]. C[46A T, 706C T]. C[199A G, exons1-5del]. P[Met67Val, Exon1 5del]. C[323C A, 775C T]. C[652C T, 664G T]. C[685C G, 851C T]. C[707G A, 1415 16delAG]. C[707G A, 1534G A]. C[757C G, 1817C T]. C[820C T, 838C T]. C[901-5c a, 1438C A]. P[901-5c a, Pro480Thr]. C[1224 1gt tg, 1165C T]. C[1288C T, 1390C T]. C[exon5del, 1635-2a g]. C[1876G A, 2087A T]. J Haasjes and P.A.W. Mooijer. The Johns Hopkins DNA Diagnostic Lab, Institute of Geneti...
x-ald.nl
Mutations in ABCD1 « X-linked Adrenoleukodystrophy database
http://www.x-ald.nl/mutations-gene/mutations-in-abcd1
June 16th, 2016. Mutations sorted by nucleotide position. The ALD database reports all mutations conform to the nomenclature recommended by the Human Genome Variation Society. All mutations, including those already published, are annotated using the “ Alamut Visual. 8221; software package. The column headed ALDP indicates the effect of the mutation on the ALD protein assessed in fibroblasts by immunofluorescence and /or protein blot analysis. (n.d.) = unknown, no data provided. Effect on ALDP stability.
bridges-research.eu
Participants | Bridges
https://bridges-research.eu/other-consortia
Leiden University Medical Center. Department of Human Genetics. The Chancellor, Masters and Scholars of the University of Cambridge. Department of Public Health and Primary Care. Fundacion Centro Nacional de Investigaciones Oncologicas Carlos III. Human Genetics Group, Human Cancer Genetics Programme. Canceromics Branch, Division Oncology and Pathology. Institute for Medical Informatics, Statistics and Epidemiology. Servicio Madrileno de Salud. Service de Genetique Oncologique. In New York, the USA.
dev.lrg-sequence.org
FAQ – Locus Reference Genomic – LRG sequences provide a stable genomic DNA framework for reporting variants with a permanent ID and core content that never changes.
http://dev.lrg-sequence.org/faq
Stable reference sequences for reporting variants. This is the LRG Frequently Asked Questions page. A LRG webinar is available on YouTube. This webinar provides you with an overview and demo of the Locus Reference Genomic (LRG) resource. A manually curated reference resource for the reporting of clinically relevant variants. The webinar and its PowerPoint presentation are available on the LRG page of the EMBL-EBI Online training. What is an LRG? Why do we need LRGs? What is contained in an LRG record?
x-ald.nl
New mutations « X-linked Adrenoleukodystrophy database
http://www.x-ald.nl/mutations-gene/new-mutations
April 18th, 2016. New mutations added to the database. The ALD database reports all mutations conform to the nomenclature recommended by the Human Genome Variation Society. All mutations, including those already published, are annotated using the Alamut Visual. Software package. The column headed ALDP indicates the effect of the mutation on the ALD protein assessed in fibroblasts by immunofluorescence and /or protein blot analysis. (n.d.) = unknown, no data provided. J Haasjes and P.A.W. Mooi...The Johns...
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