sábado, 8 de diciembre de 2018

Liquid biopsy - OMIM - NCBI

Liquid biopsy - OMIM - NCBI

Graphic 

Caption: DNA (blue) loops around nucleosomes (gray) and is bound by transcription factors (red), proteins that switch genes on and off and act in a tissue-specific manner. When cells die, enzymes (scissors) chop up areas between the nucleosomes and transcription factors, releasing DNA fragments in unique patterns. By gathering the released DNA fragments in blood, researchers can tell which types of cells produced them.
Credit: Shendure Lab/University of Washington
From NIH OMIM

OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily.

FABRY DISEASE, CARDIAC VARIANT, INCLUDED
Cytogenetic locations: Xq22.1
2.
3.
4.
APO-DYSTROPHIN 1, INCLUDED
Cytogenetic locations: Xp21.2-p21.1
6.
Cytogenetic locations: 19q13.2, 1pter-p36.13, 1q23.3
7.
8.
11.
14.
GLUCAGON-LIKE PEPTIDE 1, INCLUDED; GLP1, INCLUDED
Cytogenetic locations: 2q24.2
16.
EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, LOCALISATA VARIANT, INCLUDED
Cytogenetic locations: 1pter-p36.13, 3p21.31
18.

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