Human Genome Sequencing Center

Last updated

The Baylor College of Medicine Human Genome Sequencing Center (BCM-HGSC) was established by Richard A. Gibbs in 1996 when Baylor College of Medicine was chosen as one of six worldwide sites to complete the final phase of the international Human Genome Project. [1] [2] Gibbs is the current director of the BCM-HGSC.

It occupies more than 36,000 square feet (3,300 m2), employing over 180 staff, and is one of three National Institutes of Health funded genome centers that were involved in the completion of the first human genome sequence. The BCM-HGSC contributed approximately 10 percent of the total project by sequencing chromosomes 3, 12 and X. [3] The BCM-HGSC collaborated with researchers at the U.S. Department of Energy's Lawrence Berkeley National Laboratory and Celera Genomics to sequence the first species of fruit fly, Drosophila melanogaster . [4] The BCM-HGSC also completed the second species of fruit fly ( Drosophila pseudoobscura ), [5] the honeybee ( Apis mellifera ), [6] and led an international consortium to sequence the brown Norway rat. [7]

The BCM-HGSC subsequently sequenced and annotated the genome of the cow (Bos taurus), the sea urchin, rhesus macaque, tammar wallaby, Dictyostelium discoideum , and a number of bacteria that cause serious infections ( Rickettsia typhi , Enterococcus faecium , Mannheimia haemolytica , and Fusobacterium nucleatum ). The BCM-HGSC was a major contributor to the Mammalian Gene Collection program, [8] to sequence all human cDNAs, as well as the International Haplotype Mapping Project (HapMap).[ citation needed ]

Other research within the BCM-HGSC includes new molecular technologies for mapping and sequencing, novel chemistries for DNA tagging, instrumentation for DNA manipulation, new computer programs for genomic data analysis, the genes expressed in childhood leukemias, the genomic differences that lead to evolutionary changes, the role of host genetic variation in the course of infectious disease, and the molecular basis of specific genetic diseases. The sequencing for the Drosophila Genetic Reference Panel (DGRP) was performed here. The DGRP is a collaborative effort started by Trudy Mackay to establish a common standard for Drosophila melanogaster research. The HGSC has an active bioinformatics program, with research projects involving biologists and computer scientists. Problems under study focus on developing tools for generating, manipulating, and analyzing genome data.[ citation needed ]

The BCM-HGSC is also involved with the Human Heredity and Health in Africa (H3Africa) Consortium. This collaboration resulted in a major study led by Neil Hanchard in which whole genome sequencing was performed on 426 individuals from 50 ethnolinguistic groups across Africa. [9] As part of this study, more than 3 million previously un-described variants were uncovered.

Related Research Articles

<span class="mw-page-title-main">Craig Venter</span> American biotechnologist and businessman

John Craig Venter is an American biotechnologist and businessman. He is known for leading one of the first draft sequences of the human genome and assembled the first team to transfect a cell with a synthetic chromosome. Venter founded Celera Genomics, the Institute for Genomic Research (TIGR) and the J. Craig Venter Institute (JCVI). He was the co-founder of Human Longevity Inc. and Synthetic Genomics. He was listed on Time magazine's 2007 and 2008 Time 100 list of the most influential people in the world. In 2010, the British magazine New Statesman listed Craig Venter at 14th in the list of "The World's 50 Most Influential Figures 2010". In 2012, Venter was honored with Dan David Prize for his contribution to genome research. He was elected to the American Philosophical Society in 2013. He is a member of the USA Science and Engineering Festival's advisory board.

<i>Drosophila</i> Genus of flies

Drosophila is a genus of flies, belonging to the family Drosophilidae, whose members are often called "small fruit flies" or pomace flies, vinegar flies, or wine flies, a reference to the characteristic of many species to linger around overripe or rotting fruit. They should not be confused with the Tephritidae, a related family, which are also called fruit flies ; tephritids feed primarily on unripe or ripe fruit, with many species being regarded as destructive agricultural pests, especially the Mediterranean fruit fly.

In genetics, shotgun sequencing is a method used for sequencing random DNA strands. It is named by analogy with the rapidly expanding, quasi-random shot grouping of a shotgun.

A genetic screen or mutagenesis screen is an experimental technique used to identify and select individuals who possess a phenotype of interest in a mutagenized population. Hence a genetic screen is a type of phenotypic screen. Genetic screens can provide important information on gene function as well as the molecular events that underlie a biological process or pathway. While genome projects have identified an extensive inventory of genes in many different organisms, genetic screens can provide valuable insight as to how those genes function.

In bioinformatics, sequence assembly refers to aligning and merging fragments from a longer DNA sequence in order to reconstruct the original sequence. This is needed as DNA sequencing technology might not be able to 'read' whole genomes in one go, but rather reads small pieces of between 20 and 30,000 bases, depending on the technology used. Typically, the short fragments (reads) result from shotgun sequencing genomic DNA, or gene transcript (ESTs).

<span class="mw-page-title-main">Comparative genomics</span>

Comparative genomics is a field of biological research in which the genomic features of different organisms are compared. The genomic features may include the DNA sequence, genes, gene order, regulatory sequences, and other genomic structural landmarks. In this branch of genomics, whole or large parts of genomes resulting from genome projects are compared to study basic biological similarities and differences as well as evolutionary relationships between organisms. The major principle of comparative genomics is that common features of two organisms will often be encoded within the DNA that is evolutionarily conserved between them. Therefore, comparative genomic approaches start with making some form of alignment of genome sequences and looking for orthologous sequences in the aligned genomes and checking to what extent those sequences are conserved. Based on these, genome and molecular evolution are inferred and this may in turn be put in the context of, for example, phenotypic evolution or population genetics.

<span class="mw-page-title-main">Michael Ashburner</span> English biologist (1942–2023)

Michael Ashburner was an English biologist and Professor in the Department of Genetics at University of Cambridge. He was also the former joint-head and co-founder of the European Bioinformatics Institute (EBI) of the European Molecular Biology Laboratory (EMBL) and a Fellow of Churchill College, Cambridge.

BeeBase was an online bioinformatics database that hosted data related to Apis mellifera, the European honey bee along with some pathogens and other species. It was developed in collaboration with the Honey Bee Genome Sequencing Consortium. In 2020 it was archived and replaced by the Hymenoptera Genome Database.

Gerald Mayer Rubin is an American biologist, notable for pioneering the use of transposable P elements in genetics, and for leading the public project to sequence the Drosophila melanogaster genome. Related to his genomics work, Rubin's lab is notable for development of genetic and genomics tools and studies of signal transduction and gene regulation. Rubin also serves as a vice president of the Howard Hughes Medical Institute and executive director of the Janelia Research Campus.

<span class="mw-page-title-main">Whole genome sequencing</span> Determining nearly the entirety of the DNA sequence of an organisms genome at a single time

Whole genome sequencing (WGS), also known as full genome sequencing, complete genome sequencing, or entire genome sequencing, is the process of determining the entirety, or nearly the entirety, of the DNA sequence of an organism's genome at a single time. This entails sequencing all of an organism's chromosomal DNA as well as DNA contained in the mitochondria and, for plants, in the chloroplast.

<span class="mw-page-title-main">George Weinstock</span> American geneticist

George M. Weinstock is an American geneticist and microbiologist on the faculty of The Jackson Laboratory for Genomic Medicine, where he is a professor and the associate director for microbial genomics. Before joining The Jackson Laboratory, he taught at Washington University in St. Louis and served as associate director of The Genome Institute. Previously, Dr. Weinstock was co-director of the Human Genome Sequencing Center (HGSC) at Baylor College of Medicine in Houston, Texas, and Professor of Molecular and Human Genetics there.[1] He received his B.S. degree from the University of Michigan in 1970 and his Ph.D. from the Massachusetts Institute of Technology in 1977. He has spent most of his career taking genomic approaches to study fundamental biological processes.

Drosophila Genetic Reference Panel (DGRP) is a suite of Drosophila melanogaster lines derived from an out-crossed population in Raleigh, North Carolina. The founders of these lineages were collected from the Raleigh State Farmer's Market 35.764254°N 78.662935°W. The suite consists of 205 fully sequenced lines which have been inbred to near homozygosity. The primary goal of the DGRP is to provide a common set of strain for quantitative genetics research in Drosophila. Each researcher who uses the lines from the DGRP will have access to other researchers' data, which will be stored in a publicly available database. This allows for analyses to be performed across studies without having to worry about complications arising from different labs using genomically different lines of fruit flies.

<span class="mw-page-title-main">Compositional domain</span>

A compositional domain in genetics is a region of DNA with a distinct guanine (G) and cytosine (C) G-C and C-G content. The homogeneity of compositional domains is compared to that of the chromosome on which they reside. As such, compositional domains can be homogeneous or nonhomogeneous domains. Compositionally homogeneous domains that are sufficiently long are termed isochores or isochoric domains.

Arabidopsis thaliana is a first class model organism and the single most important species for fundamental research in plant molecular genetics.

A plant genome assembly represents the complete genomic sequence of a plant species, which is assembled into chromosomes and other organelles by using DNA fragments that are obtained from different types of sequencing technology.

David L. Nelson is an American human geneticist, currently an associate director at the Intellectual and Developmental Disabilities Research Center (1995), and professor at the Department of Molecular and Human Genetics at Baylor College of Medicine BCM since 1999. Since 2018, he is the director at the Cancer and Cell Biology Ph.D program, and the director of Integrative Molecular and Biomedical Sciences Ph.D since 2015 at BCM.

Susan E. Celniker is an American biologist, a staff scientist at Lawrence Berkeley National Laboratory and an adjunct professor Comparative Biochemistry department at UC Berkeley. She is the co-director of the Berkeley Drosophila Genome Project.

Cytochrome P450, family 305, also known as CYP305, is an animal cytochrome P450 family found in insect genome. The first gene identified in this family is the CYP305A1 from the Drosophila melanogaster.

H3R8me2 is an epigenetic modification to the DNA packaging protein histone H3. It is a mark that indicates the di-methylation at the 8th arginine residue of the histone H3 protein. In epigenetics, arginine methylation of histones H3 and H4 is associated with a more accessible chromatin structure and thus higher levels of transcription. The existence of arginine demethylases that could reverse arginine methylation is controversial.

References

  1. "Human Genome Project Research Sites". web.ornl.gov. Retrieved 2021-02-14.
  2. Berger, Eric (2007-10-28). "Aussie's life choices put Houston on genome map". Chron. Retrieved 2021-02-14.
  3. "About the BCM-HGSC". BCM-HGSC. 2016-03-04. Retrieved 2021-02-14.
  4. Adams, Mark D.; Celniker, Susan E.; Holt, Robert A.; Evans, Cheryl A.; Gocayne, Jeannine D.; Amanatides, Peter G.; Scherer, Steven E.; Li, Peter W.; Hoskins, Roger A.; Galle, Richard F.; George, Reed A. (2000-03-24). "The Genome Sequence of Drosophila melanogaster". Science. 287 (5461): 2185–2195. Bibcode:2000Sci...287.2185.. doi:10.1126/science.287.5461.2185. ISSN   0036-8075. PMID   10731132.
  5. Richards, Stephen; Liu, Yue; Bettencourt, Brian R.; Hradecky, Pavel; Letovsky, Stan; Nielsen, Rasmus; Thornton, Kevin; Hubisz, Melissa J.; Chen, Rui; Meisel, Richard P.; Couronne, Olivier (January 2005). "Comparative genome sequencing of Drosophila pseudoobscura: Chromosomal, gene, and cis-element evolution". Genome Research. 15 (1): 1–18. doi: 10.1101/gr.3059305 . ISSN   1088-9051. PMC   540289 . PMID   15632085.
  6. Solignac, Michel; Zhang, Lan; Mougel, Florence; Li, Bingshan; Vautrin, Dominique; Monnerot, Monique; Cornuet, Jean-Marie; Worley, Kim C.; Weinstock, George M.; Gibbs, Richard A. (2007-03-19). "The genome of Apis mellifera: dialog between linkage mapping and sequence assembly". Genome Biology. 8 (3): 403. doi: 10.1186/gb-2007-8-3-403 . ISSN   1474-760X. PMC   1868943 . PMID   17381825.
  7. Gibbs, Richard A.; Weinstock, George M.; Metzker, Michael L.; Muzny, Donna M.; Sodergren, Erica J.; Scherer, Steven; Scott, Graham; Steffen, David; Worley, Kim C.; Burch, Paula E.; Okwuonu, Geoffrey (2004-04-01). "Genome sequence of the Brown Norway rat yields insights into mammalian evolution". Nature. 428 (6982): 493–521. Bibcode:2004Natur.428..493G. doi: 10.1038/nature02426 . ISSN   1476-4687. PMID   15057822.
  8. "Teams". genecollections.nci.nih.gov. Retrieved 2021-02-14.
  9. Choudhury, Ananyo; Aron, Shaun; Botigué, Laura R.; Sengupta, Dhriti; Botha, Gerrit; Bensellak, Taoufik; Wells, Gordon; Kumuthini, Judit; Shriner, Daniel; Fakim, Yasmina J.; Ghoorah, Anisah W. (October 2020). "High-depth African genomes inform human migration and health". Nature. 586 (7831): 741–748. doi: 10.1038/s41586-020-2859-7 . ISSN   1476-4687. PMC   7759466 . PMID   33116287.