Indian Journal of Human Genetics

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Single-nucleotide polymorphism Single nucleotide position in genomic DNA at which different sequence alternatives exist

In genetics, a single-nucleotide polymorphism is a germline substitution of a single nucleotide at a specific position in the genome. Although certain definitions require the substitution to be present in a sufficiently large fraction of the population, many publications do not apply such a frequency threshold.

Victor A. McKusick American geneticist

Victor Almon McKusick was an American internist and medical geneticist, and Professor of Medicine at the Johns Hopkins Hospital, Baltimore. He was a proponent of the mapping of the human genome due to its use for studying congenital diseases. He is well known for his studies of the Amish. He was the original author and, until his death, remained chief editor of Mendelian Inheritance in Man (MIM) and its online counterpart Online Mendelian Inheritance in Man (OMIM). He is widely known as the "father of medical genetics".

Wellcome Sanger Institute British genomics research institute

The Wellcome Sanger Institute, previously known as The Sanger Centre and Wellcome Trust Sanger Institute, is a non-profit British genomics and genetics research institute, primarily funded by the Wellcome Trust.

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Human Molecular Genetics is a semimonthly peer reviewed scientific journal published by the Oxford University Press. It covers all topics related to human molecular genetics. In addition, two "special review" issues are published each year. The editor-in-chief is CHaris Eng. The journal was established in 1992.

Endothelin B receptor Protein-coding gene in the species Homo sapiens

Endothelin receptor type B, also known as ETB is a protein that in humans is encoded by the EDNRB gene.

BCKDHA Protein-coding gene in the species Homo sapiens

A 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial is an enzyme that in humans is encoded by the BCKDHA gene.

1000 Genomes Project International research effort on genetic variation

The 1000 Genomes Project, launched in January 2008, was an international research effort to establish by far the most detailed catalogue of human genetic variation. Scientists planned to sequence the genomes of at least one thousand anonymous participants from a number of different ethnic groups within the following three years, using newly developed technologies which were faster and less expensive. In 2010, the project finished its pilot phase, which was described in detail in a publication in the journal Nature. In 2012, the sequencing of 1092 genomes was announced in a Nature publication. In 2015, two papers in Nature reported results and the completion of the project and opportunities for future research.

<i>Nature Genetics</i> Academic journal

Nature Genetics is a scientific journal founded as part of the Nature family of journals in 1992. It publishes high quality research in genetics.

Aravinda Chakravarti American geneticist

Aravinda Chakravarti is a human geneticist and expert in computational biology, and Director of the Center For Human Genetics & Genomics at New York University. He was the 2008 President of the American Society of Human Genetics. Chakravarti became a co-Editor-in-Chief of the journal Genome Research in 1995, and of the Annual Review of Genomics and Human Genetics' in 2005.

The Indian Journal of Ophthalmology is a peer-reviewed open-access medical journal published on behalf of the All India Ophthalmological Society. The journal publishes articles on ophthalmology and vision science.

<i>Indian Journal of Pharmacology</i> Academic journal

The Indian Journal of Pharmacology is a bimonthly peer-reviewed open-access medical journal published Medknow Publications on behalf of the Indian Pharmacological Society. It covers clinical and experimental pharmacology.

The Journal of Human Reproductive Sciences is a peer-reviewed open-access medical journal published on behalf of the Indian Society of Assisted Reproduction. The journal publishes articles on the subject of assisted conception, endocrinology, physiology and pathology, implantation, and preimplantation genetic diagnosis.

CAB Direct is a source of references for the applied life sciences It incorporates two bibliographic databases: CAB Abstracts and Global Health. CAB Direct is an access point for multiple bibliographic databases produced by CABI. This database contains 8.8 million bibliographic records, which includes 85,000 full text articles. It also includes noteworthy literature reviews. News articles and reports are also part of this combined database.

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Clinical Genetics is a monthly peer-reviewed medical journal covering medical genetics. It was established in 1970 and is published by Wiley-Blackwell. The editor-in-chief is Reiner A. Veitia.

AIDS Research and Human Retroviruses is a peer-reviewed scientific journal focusing on HIV/AIDS research, as well as on human retroviruses and their related diseases. The journal was founded in 1983 as AIDS Research, and acquired its current name in 1987. It is published by Mary Ann Liebert, and edited by R. Keith Reeves and Lish Ndhlovu.

The Human Phenotype Ontology (HPO) is a formal ontology of human phenotypes. Developed in collaboration with members of the Open Biomedical Ontologies Foundry, HPO currently contains over 13,000 terms and over 156,000 annotations to hereditary diseases. Data from Online Mendelian Inheritance in Man and medical literature were used to generate the terms currently in the HPO. The ontology contains over 50,000 annotations between phenotypes and hereditary disease.

Genetic studies on Arabs refers to the analyses of the genetics of ethnic Arab populations within the Middle East and North Africa. The Arab world has one of the highest rates of genetic disorders globally; some 906 pathologies are endemic to the Arab states, including thalassaemia, Tourette's syndrome, Wilson's disease, Charcot-Marie-Tooth disease, mitochondrial encephalomyopathies, and Niemann-Pick disease.

Mitali Mukerji is a Professor and Head of the Department of Bioscience and Bioengineering, IIT Jodhpur. She was formerly a Chief Scientist at the CSIR Institute of Genomics and Integrative Biology with notable achievement in the field of human genomics and personalized medicine. She is best known for initiating the field of "Ayurgenomics" in partnership with her colleague Dr. Bhavana Prasher under the mentorship of Prof. Samir K. Brahmachari. Ayurgenomics is an innovative study, blending the principles of Ayurveda- the traditional Indian system of medicine- with genomics. Mukerji is also a major contributor in the Indian Genome Variation Consortium, a comprehensive database that is producing "the first genetic landscape of the Indian population", and has been an author in many publications that use IGV databases to study population genomics. Mukerji has done extensive research on hereditary ataxias, and is involved in many other projects related to tracking disease origins and mutational histories. She is the recipient of the prestigious Shanti Swarup Bhatnagar Award in 2010 for her contribution in the field of Medical Sciences.

Tapas Kumar Kundu is an Indian molecular biologist, academician and at present the Director of Central Drug Research Institute, a prestigious research institute of Council of Scientific and Industrial Research at Lucknow. He is the head of the Transcription and Disease Laboratory of Jawaharlal Nehru Centre for Advanced Scientific Research. He is known for his studies on the regulation of Gene expression and his contributions in cancer diagnostics and the development of new drug candidates for cancer and AIDS therapeutics. He is an elected fellow of the Indian Academy of Sciences, Indian National Science Academy and the National Academy of Sciences, India and a J. C. Bose National Fellow of the Department of Science and Technology. The Council of Scientific and Industrial Research, the apex agency of the Government of India for scientific research, awarded him the Shanti Swarup Bhatnagar Prize for Science and Technology, one of the highest Indian science awards, in 2005, for his contributions to biological sciences. He is also a recipient of the National Bioscience Award for Career Development of the Department of Biotechnology.

<i>Archives of Biological Sciences</i> Academic journal

The Archives of Biological Sciences is a multidisciplinary journal that covers original research in a wide range of subjects in life science, including biology, ecology, human biology and biomedical research.