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Bioinformatics is an interdisciplinary field of science that develops methods and software tools for understanding biological data, especially when the data sets are large and complex. Bioinformatics uses biology, chemistry, physics, computer science, computer programming, information engineering, mathematics and statistics to analyze and interpret biological data. The subsequent process of analyzing and interpreting data is referred to as computational biology.
The human genome is a complete set of nucleic acid sequences for humans, encoded as DNA within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria. These are usually treated separately as the nuclear genome and the mitochondrial genome. Human genomes include both protein-coding DNA sequences and various types of DNA that does not encode proteins. The latter is a diverse category that includes DNA coding for non-translated RNA, such as that for ribosomal RNA, transfer RNA, ribozymes, small nuclear RNAs, and several types of regulatory RNAs. It also includes promoters and their associated gene-regulatory elements, DNA playing structural and replicatory roles, such as scaffolding regions, telomeres, centromeres, and origins of replication, plus large numbers of transposable elements, inserted viral DNA, non-functional pseudogenes and simple, highly repetitive sequences. Introns make up a large percentage of non-coding DNA. Some of this non-coding DNA is non-functional junk DNA, such as pseudogenes, but there is no firm consensus on the total amount of junk DNA.
Marco A. Marra is a Distinguished Scientist and Director of Canada's Michael Smith Genome Sciences Centre at the BC Cancer Research Centre and Professor of Medical Genetics at the University of British Columbia (UBC). He also serves as UBC Canada Research Chair in Genome Science for the Canadian Institutes of Health Research and is an inductee in the Canadian Medical Hall of Fame. Marra has been instrumental in bringing genome science to Canada by demonstrating the pivotal role that genomics can play in human health and disease research.
Eric Steven Lander is an American mathematician and geneticist who is a professor of biology at the Massachusetts Institute of Technology (MIT), and a professor of systems biology at Harvard Medical School. Eric Lander is founding director emeritus of the Broad Institute of MIT and Harvard. He is a 1987 MacArthur Fellow and Rhodes Scholar.
The National Human Genome Research Institute (NHGRI) is an institute of the National Institutes of Health, located in Bethesda, Maryland.
The Human Genome Project (HGP) was an international scientific research project with the goal of determining the base pairs that make up human DNA, and of identifying, mapping and sequencing all of the genes of the human genome from both a physical and a functional standpoint. It started in 1990 and was completed in 2003. It remains the world's largest collaborative biological project. Planning for the project started after it was adopted in 1984 by the US government, and it officially launched in 1990. It was declared complete on April 14, 2003, and included about 92% of the genome. Level "complete genome" was achieved in May 2021, with a remaining only 0.3% bases covered by potential issues. The final gapless assembly was finished in January 2022.
Claire M. Fraser is an American genome scientist and microbiologist who has worked in microbial genomics and genome medicine. Her research has contributed to the understanding of the diversity and evolution of microbial life. Fraser is the director of the Institute for Genome Sciences at the University of Maryland School of Medicine in Baltimore, MD, where she holds the Dean's Endowed Professorship in the School of Medicine. She has joint faculty appointments at the University of Maryland School of Medicine in the Departments of Medicine and Microbiology/Immunology. In 2019, she began serving a one-year term as President-Elect for the American Association for the Advancement of Science (AAAS), which will be followed by a one-year term as AAAS president starting in February 2020 and a one-year term as chair of the Board of Directors in February 2021.
David Haussler is an American bioinformatician known for his work leading the team that assembled the first human genome sequence in the race to complete the Human Genome Project and subsequently for comparative genome analysis that deepens understanding the molecular function and evolution of the genome.
Eugene Wimberly "Gene" Myers, Jr. is an American computer scientist and bioinformatician, who is best known for contributing to the early development of the NCBI's BLAST tool for sequence analysis.
A reference genome is a digital nucleic acid sequence database, assembled by scientists as a representative example of the set of genes in one idealized individual organism of a species. As they are assembled from the sequencing of DNA from a number of individual donors, reference genomes do not accurately represent the set of genes of any single individual organism. Instead a reference provides a haploid mosaic of different DNA sequences from each donor. For example, one of the most recent human reference genomes, assembly GRCh38/hg38, is derived from >60 genomic clone libraries. There are reference genomes for multiple species of viruses, bacteria, fungus, plants, and animals. Reference genomes are typically used as a guide on which new genomes are built, enabling them to be assembled much more quickly and cheaply than the initial Human Genome Project. Reference genomes can be accessed online at several locations, using dedicated browsers such as Ensembl or UCSC Genome Browser.
Titia de Lange is the Director of the Anderson Center for Cancer Research, the Leon Hess professor and the head of Laboratory Cell Biology and Genetics at Rockefeller University.
Vineet Bafna is an Indian bioinformatician and professor of computer science and director of bioinformatics program at University of California, San Diego. He was elected a Fellow of the International Society for Computational Biology (ISCB) in 2019 for outstanding contributions to the fields of computational biology and bioinformatics. He has also been a member of the Research in Computational Molecular Biology (RECOMB) conference steering committee.
The UC Santa Cruz Genomics Institute is a public research institution based in the Jack Baskin School of Engineering at the University of California, Santa Cruz. The Genomics Institute's scientists and engineers work on a variety of projects related to genome sequencing, computational biology, large data analytics, and data sharing. The institute also maintains a number of software tools used by researchers worldwide, including the UCSC Genome Browser, Dockstore, and the Xena Browser.
Karen Elizabeth Hayden Miga is an American geneticist who co-leads the Telomere-to-Telomore (T2T) consortium that released fully complete assembly of the human genome in March 2022. She is an assistant professor of biomolecular engineering at the University of California, Santa Cruz and Associate Director of Human Pangenomics at the UC Santa Cruz Genomics Institute. She was named as "One to Watch" in the 2020 Nature's 10 and one of Time 100’s most influential people of 2022.
Kathy Lynn Hudson is an American microbiologist specializing in science policy. She was the deputy director for science, outreach, and policy at the National Institutes of Health from October 2010 to January 2017. Hudson assisted in the creation and launch of All of Us, the BRAIN initiative, and the National Center for Advancing Translational Sciences. She founded the Genetics and Public Policy Center at Johns Hopkins University in 2002. Hudson is an advocate for women in science.
Xiaohong Rose Yang is an American biomedical scientist researching the genetics of dysplastic nevus syndrome and chordoma, and etiologic heterogeneity of breast cancer. She is a senior investigator at the National Cancer Institute. Yang leads breast cancer studies in mainland China, Hong Kong, and Malaysia.
Tyra Gwendolen Wolfsberg is an American bioinformatician. She is the associate director of the bioinformatics and scientific programming core at the National Human Genome Research Institute.
Sergey Koren is an American bioinformatician who is an associate investigator in the genome informatics section at the National Human Genome Research Institute.
Arang Rhie is a South Korean bioinformatician serving as a staff scientist in the genome informatics section at the National Human Genome Research Institute.
Circular consensus sequencing (CCS) is a DNA sequencing method that is used in conjunction with single-molecule real-time sequencing to yield highly accurate long-read sequencing datasets with read lengths averaging 15–25 kb with median accuracy greater than 99.9%. These long reads, which are created via the formation of consensus sequencing obtained from multiple passes on a single DNA molecule, can be used to improve results for complex applications such as single nucleotide and structural variant detection, genome assembly, assembly of difficult polyploid or highly repetitive genomes, and assembly of metagenomes.
References
- 1 2 3 4 "Adam M. Phillippy, Ph.D." Genome.gov. Retrieved 2023-05-28.
This article incorporates text from this source, which is in the public domain . - 1 2 "Member Spotlight: Adam Phillippy". The Key Reporter. The Phi Beta Kappa Society: 3. Fall 2023.
- ↑ Nurk, Sergey; et al. (31 Mar 2022). "The complete sequence of a human genome" (PDF). Science . 376 (6588): 44–53. doi:10.1126/science.abj6987 . Retrieved 2023-10-19.
- ↑ "Adam Phillippy, PhD". Genome Informatics Section. Retrieved 2023-10-18.
- ↑ Doudna, Jennifer (May 23, 2022). "The 100 Most Influential People of 2022: Michael Schatz, Karen Miga, Evan Eichler, and Adam Phillippy". Time . Retrieved 2023-10-18.
- ↑ "2023 Science, Technology and Environment Award". Partnership for Public Service. Retrieved 2023-10-18.
This article incorporates public domain material from websites or documents of the National Institutes of Health.