GenomicsGeneRegulationHLBS2010
... Over half of ultraconserved noncoding sequences are developmental enhancers Pennacchio et al. (2006) Nature 444:499-502 ...
... Over half of ultraconserved noncoding sequences are developmental enhancers Pennacchio et al. (2006) Nature 444:499-502 ...
(1) in ppt - NYU Computer Science Department
... h1: proportion of duplications by repeat recombination; h1++: proportion of duplications by recombination of the specific repeat; h1- - : proportion of duplications by recombination of other repeats; h0: proportion of duplications by other repeat-unrelated mechanism; h0++: proportion of h0 with comm ...
... h1: proportion of duplications by repeat recombination; h1++: proportion of duplications by recombination of the specific repeat; h1- - : proportion of duplications by recombination of other repeats; h0: proportion of duplications by other repeat-unrelated mechanism; h0++: proportion of h0 with comm ...
powerpoint slides
... 1953 – DNA structure (Watson & Crick) 1972 – Recombinant DNA (Paul Berg) 1977 – DNA sequencing (Maxam, Gilbert and Sanger) 1985 – PCR technology (Kary Mullis) 1986 – automated sequencing (Leroy Hood & Lloyd Smith 1988 – IHGSC established (NIH, DOE) Watson leads 1990 – IHGSC scaled up, BLAST publishe ...
... 1953 – DNA structure (Watson & Crick) 1972 – Recombinant DNA (Paul Berg) 1977 – DNA sequencing (Maxam, Gilbert and Sanger) 1985 – PCR technology (Kary Mullis) 1986 – automated sequencing (Leroy Hood & Lloyd Smith 1988 – IHGSC established (NIH, DOE) Watson leads 1990 – IHGSC scaled up, BLAST publishe ...
Lecture 1 - Portal UniMAP
... • 1961 Discovery of the hematopoietic stem cell by Toronto researchers • 1975 George Kohler and Cesar Milstein show that fusing cells can generate monoclonal antibodies. • • 1982 First genetically engineered product - human insulin produced by Eli Lilly and Company using E. coli bacteria - is approv ...
... • 1961 Discovery of the hematopoietic stem cell by Toronto researchers • 1975 George Kohler and Cesar Milstein show that fusing cells can generate monoclonal antibodies. • • 1982 First genetically engineered product - human insulin produced by Eli Lilly and Company using E. coli bacteria - is approv ...
THE MOLECULAR BASIS OF SINGLE GENE DISORDERS
... Deletion of part of whole of the ß-globin gene cluster resulting in ß°-thal. have been reported, but are more rare. Unequal crossing over between two homologous chromosome 11 results in production of Hb Lepore and Hb anti-lepore. In summary, the single gene disorders are a large group which result f ...
... Deletion of part of whole of the ß-globin gene cluster resulting in ß°-thal. have been reported, but are more rare. Unequal crossing over between two homologous chromosome 11 results in production of Hb Lepore and Hb anti-lepore. In summary, the single gene disorders are a large group which result f ...
Pedigree Drawing
... Textbooks: “Emery’s Elements of Medical genetics” Strachan & Read “Human Molecular Genetics” (for the genome project material) ...
... Textbooks: “Emery’s Elements of Medical genetics” Strachan & Read “Human Molecular Genetics” (for the genome project material) ...
Leukaemia Section t(12;12)(p13;q13) ETV6/BAZ2A Atlas of Genetics and Cytogenetics in Oncology and Haematology
... referred to as the pointed (PNT) or sterile alpha motif (SAM) domain), responsible for hetero- and homodimerization, a central domain involved in the recruitment of a repression complex including NCOR2 and SIN3, and an ETS domain, responsible for sequence specific DNA-binding to DNA-responsive eleme ...
... referred to as the pointed (PNT) or sterile alpha motif (SAM) domain), responsible for hetero- and homodimerization, a central domain involved in the recruitment of a repression complex including NCOR2 and SIN3, and an ETS domain, responsible for sequence specific DNA-binding to DNA-responsive eleme ...
Silencing defective genes: a possible treatment strategy
... Basic research into how brain cells communicate with each other is critical, says Austen Milnerwood, a translational neuroscientist at the University of British Columbia. Traditionally, treatment for Parkinson’s has focused on alleviating the symptoms of Parkinson’s. If Milnerwood and his colleagues ...
... Basic research into how brain cells communicate with each other is critical, says Austen Milnerwood, a translational neuroscientist at the University of British Columbia. Traditionally, treatment for Parkinson’s has focused on alleviating the symptoms of Parkinson’s. If Milnerwood and his colleagues ...
reading guide
... to affect gene expression. Label the following elements: TATA box, promoter, gene, enhancer, activators, transcription factors, transcription initiation complex, RNA polymerase II, and DNA. Then place your explanation to the right of the figure. EXPLANATION ...
... to affect gene expression. Label the following elements: TATA box, promoter, gene, enhancer, activators, transcription factors, transcription initiation complex, RNA polymerase II, and DNA. Then place your explanation to the right of the figure. EXPLANATION ...
news and views feature
... sequencing has now been adopted in many different laboratories around the world. Four years ago in these columns I examined the situation after a dozen microbial genomes had been completed2. Now, with upwards of 60 microbial genome sequences determined and twice that many in progress, it seems reaso ...
... sequencing has now been adopted in many different laboratories around the world. Four years ago in these columns I examined the situation after a dozen microbial genomes had been completed2. Now, with upwards of 60 microbial genome sequences determined and twice that many in progress, it seems reaso ...
Prokaryotic genomes
... An approach for genome analysis based on sequencing and assembly of unselected pieces of DNA from the whole chromosome has been applied to obtain the complete nucleotide sequence (1,830,137 base pairs) of the genome from the bacterium Haemophilus influenzae Rd. This approach eliminates the need for ...
... An approach for genome analysis based on sequencing and assembly of unselected pieces of DNA from the whole chromosome has been applied to obtain the complete nucleotide sequence (1,830,137 base pairs) of the genome from the bacterium Haemophilus influenzae Rd. This approach eliminates the need for ...
Cancer-genetics-referral
... with cancer then their family history is unlikely to be due to a high risk cancer predisposition syndrome and they will be better managed in primary or secondary care. If in doubt please call us at the above number. Please refer only those individuals who have at least one first degree relative with ...
... with cancer then their family history is unlikely to be due to a high risk cancer predisposition syndrome and they will be better managed in primary or secondary care. If in doubt please call us at the above number. Please refer only those individuals who have at least one first degree relative with ...
NBS for P and F Carrier.pmd
... if your baby is a CF carrier, then either you and/or your partner are also carriers of the CF gene mutation. If both of you are CF carriers, then you could have a baby with CF in the future. This fact sheet talks about what it means to be a carrier of a CF gene mutation. WHAT IS CYSTIC FIBROSIS? CF ...
... if your baby is a CF carrier, then either you and/or your partner are also carriers of the CF gene mutation. If both of you are CF carriers, then you could have a baby with CF in the future. This fact sheet talks about what it means to be a carrier of a CF gene mutation. WHAT IS CYSTIC FIBROSIS? CF ...
Cancer genetics referral guidelines
... with cancer then their family history is unlikely to be due to a high risk cancer predisposition syndrome and they will be better managed in primary or secondary care. If in doubt please call us at the above number. Please refer only those individuals who have at least one first degree relative with ...
... with cancer then their family history is unlikely to be due to a high risk cancer predisposition syndrome and they will be better managed in primary or secondary care. If in doubt please call us at the above number. Please refer only those individuals who have at least one first degree relative with ...
CONNECTIVE TISSUE LABORATORY Center for Medical Genetics
... (elastin) and Von Kossa (calcium) staining methods. If a clinical diagnosis of PXE is suspected, an initial molecular analysis of exons 18, 24, 28 and 29 of the ABCC6 gene is performed and the presence of the frequent 23-29 multi-exon deletion is verified. This set of exons contains 80% of the mutat ...
... (elastin) and Von Kossa (calcium) staining methods. If a clinical diagnosis of PXE is suspected, an initial molecular analysis of exons 18, 24, 28 and 29 of the ABCC6 gene is performed and the presence of the frequent 23-29 multi-exon deletion is verified. This set of exons contains 80% of the mutat ...
Albena Jordanova - the Department of Molecular Genetics
... peripheral neuropathies and epilepsies using population and family based genetic approaches. Aminoacyl-tRNA synthetases are ubiquitously expressed and essential proteins, involved in the initial steps of protein biosynthesis and therefore indispensible for cell survival. We recently reported that sp ...
... peripheral neuropathies and epilepsies using population and family based genetic approaches. Aminoacyl-tRNA synthetases are ubiquitously expressed and essential proteins, involved in the initial steps of protein biosynthesis and therefore indispensible for cell survival. We recently reported that sp ...
- Wiley Online Library
... features of CED (Table 1, Fig. 1B and C), they all had markedly lax skin with joint laxity fulfilling the clinical definition of cutis laxa, but none had evidence of retinal involvement and only the oldest patient developed end-stage renal failure. In addition, the two older siblings have confirmed ...
... features of CED (Table 1, Fig. 1B and C), they all had markedly lax skin with joint laxity fulfilling the clinical definition of cutis laxa, but none had evidence of retinal involvement and only the oldest patient developed end-stage renal failure. In addition, the two older siblings have confirmed ...
Ancestral reconstruction and investigations of - GdR BIM
... [1]-Bassam Alkindy, Christophe Guyeux, Jean-François Couchot, Michel Salomon, Christian Parisod, and Jacques Bahi. Hybrid genetic algorithm and lasso test approach for inferring well supported phylogenetic trees based on subsets of chloroplastic core genes. In AlCoB 2015, 2nd Int. [2]-Bassam Alkindy ...
... [1]-Bassam Alkindy, Christophe Guyeux, Jean-François Couchot, Michel Salomon, Christian Parisod, and Jacques Bahi. Hybrid genetic algorithm and lasso test approach for inferring well supported phylogenetic trees based on subsets of chloroplastic core genes. In AlCoB 2015, 2nd Int. [2]-Bassam Alkindy ...
Population Genetics
... • Change in DNA’s nucleotide sequence. • Raw source for new genes and alleles • Most mutations are somatic cell mutations and do not affect offspring • Only gametic mutations affect a gene pool. • Mutation rates – Lower in organisms with a longer generation span • Plants and animals – 1/100000 genes ...
... • Change in DNA’s nucleotide sequence. • Raw source for new genes and alleles • Most mutations are somatic cell mutations and do not affect offspring • Only gametic mutations affect a gene pool. • Mutation rates – Lower in organisms with a longer generation span • Plants and animals – 1/100000 genes ...
Breast Cancer Res Treat (2008)
... families however were found to carry a 5331 G to A base substitution in BRCA1 gene. This accounts for *3% (8/ 287) of all breast/ovarian cancer families we have studied and 12.3% (8/65) of all carriers of a deleterious mutation in BRCA1 and BRCA2 genes. No other mutations or unclassified variants we ...
... families however were found to carry a 5331 G to A base substitution in BRCA1 gene. This accounts for *3% (8/ 287) of all breast/ovarian cancer families we have studied and 12.3% (8/65) of all carriers of a deleterious mutation in BRCA1 and BRCA2 genes. No other mutations or unclassified variants we ...
Specific BRCA1 gene variations amongst young
... Breast cancer is the most common cancer in women. Although epidemiological surveys in western countries represent a good overview about the incidence and the mortality rate of this disease, investigations in developing countries are very limited, despite the fact that the incidence of breast cancer ...
... Breast cancer is the most common cancer in women. Although epidemiological surveys in western countries represent a good overview about the incidence and the mortality rate of this disease, investigations in developing countries are very limited, despite the fact that the incidence of breast cancer ...
Oncogenomics
Oncogenomics is a relatively new sub-field of genomics that applies high throughput technologies to characterize genes associated with cancer. Oncogenomics is synonymous with ""cancer genomics"". Cancer is a genetic disease caused by accumulation of mutations to DNA leading to unrestrained cell proliferation and neoplasm formation. The goal of oncogenomics is to identify new oncogenes or tumor suppressor genes that may provide new insights into cancer diagnosis, predicting clinical outcome of cancers, and new targets for cancer therapies. The success of targeted cancer therapies such as Gleevec, Herceptin, and Avastin raised the hope for oncogenomics to elucidate new targets for cancer treatment.Besides understanding the underlying genetic mechanisms that initiates or drives cancer progression, one of the main goals of oncogenomics is to allow for the development of personalized cancer treatment. Cancer develops due to an accumulation of mutations in DNA. These mutations accumulate randomly, and thus, different DNA mutations and mutation combinations exist between different individuals with the same type of cancer. Thus, identifying and targeting specific mutations which have occurred in an individual patient may lead to increased efficacy of cancer therapy.The completion of the Human Genome Project has greatly facilitated the field of oncogenomics and has increased the abilities of researchers to find cancer causing genes. In addition, the sequencing technologies now available for sequence generation and data analysis have been applied to the study of oncogenomics. With the amount of research conducted on cancer genomes and the accumulation of databases documenting the mutational changes, it has been predicted that the most important cancer-causing mutations, rearrangements, and altered expression levels will be cataloged and well characterized within the next decade.Cancer research may look either on the genomic level at DNA mutations, the epigenetic level at methylation or histone modification changes, the transcription level at altered levels of gene expression, or the protein level at altered levels of protein abundance and function in cancer cells. Oncogenomics focuses on the genomic, epigenomic, and transcript level alterations in cancer.