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Genomics of Rare Genetic Diseases 2015
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About Us
Background
Clinical Exome Analysis
Clinical Genomics Meeting (ClinGeM)
Contact us
Events & Courses
ClinGeM Delhi
Gene Ambassador Programme - GAP2016
Genetics & Genomics in Cardiovascular Diseases / 2nd MMM Genetics Meeting
GenoDerma (03-05 Feb 2017, Pune) - Genomics in Clinical Dermatology
GenoMed Calicut 2016
Genomics for Clinicians - Jaipur 2016
Genomics for Clinicians / Tirunelveli Medical College
Genomics for Personalised & Precision Medicine
Genomics for Personalized and Precision Medicine - One day meeting and Hands-on workshop on Exome Sequence Analysis
Genomics in Clinics - AIIMS & CSIR-IGIB joint meeting on the concept and application of Genomics in Clinical Medicine
Hands-on Workshop on Analysis of Human Exome Data
Exome Sequence Analysis and Interpretation
Gene Ambassador Programme
Genetic Diagnosis of Mitochondrial Diseases
Genomics of Rare Genetic Diseases 2015
Give to GUaRDIAN
Hemophilia
iCROWD - Indian Collaborative Research Consortium on Wilson's Disease
Media
5-year-old ‘butterfly’ boy at PGI for treatment
An anomaly that could kill - AS Jayanth in The Hindu
Disruptive transformation. Sridhar Sivasubbu and Vinod Scaria (LiveMINT Feb 16 2016)
Interpretation of a malady: how scientists zeroed in on one family's rare and crippling disease
Research on genes rules out ailment in youngest sibling (Umesh Isalkar in Times of India Oct 6, 2016)
Screening for rare genetic disorders at a point-of-click. (Prasad Ravindranath / The Hindu July 10, 2016)
Should you take that genetic test ? Jacob Koshy (The Hindu May 15, 2016)
Studying genome sequencing of over 90-year-olds, centenarians. G N Prashanth (Deccan Herald Jan 05, 2015)
आनुवांशिक बीमारियों की जांच के लिए मेडिकल कॉलेज खोल रहा रिसर्च लैब
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Achondroplasia India
Publications
Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa
Chemical and genetic rescue of an ep300 knockdown model for Rubinstein Taybi syndrome in zebrafish
Development of a Clinical Diagnostic Matrix for characterising Inherited Epidermolysis Bullosa.
Egyptian tale from India: application of whole-exome sequencing in diagnosis of atypical familial Mediterranean fever
Elucidating the Phenotype and Genotype Spectrum of Junctional Epidermolysis Bullosa in India
Exome sequencing reveals a novel mutation, p.L325H, in the KRT5 gene associated with autosomal dominant Epidermolysis Bullosa Simplex Koebner type in a large family from western India
Genetic epidemiology of Familial Mediterranean Fever through integrative analysis of whole genome and exome sequences from Middle East and North Africa
mit-o-matic: a comprehensive computational pipeline for clinical evaluation of mitochondrial variations from next-generation sequencing datasets
Rescue of neural crest derived phenotypes in a zebrafish CHARGE model by sox10 downregulation
Systematic analysis and functional annotation of variations in the genome of an Indian individual.
Systematic Pharmacogenomis analysis of a Malay whole genome: Proof of concept for personalized medicine
Unilateral monomorphic hypopigmented macules: A variant of Darier disease
Whole exome sequencing helps in accurate molecular diagnosis in siblings with a rare co-occurrence of paternally inherited 22q12 duplication and autosomal recessive non-syndromic ichthyosis
Whole exome sequencing in a multi-generation family from India reveals a genetic variation c.10C>T (p.Gln4Ter) in keratin 5 gene associated with Dowling–Degos disease
Whole-exome sequencing solves diagnostic dilemma in a rare case of sporadic acrokeratosis verruciformis
Pulse
Exome sequencing to understand genetic mutations in rare genetic diseases
Personal genomics in clinical medicine : it is not in the future anymore
Rare Diseases Registry
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Research
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Indian Feverome Project
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