Introduction to Human Genomics - Laboratories of Human Molecular
... the chromosomal location, then S for a unique segment, Z for a multilocus DNA family, and finally a serial number. The letter E following the number for an anonymous DNA sequence indicates that the sequence is known to be expressed. ...
... the chromosomal location, then S for a unique segment, Z for a multilocus DNA family, and finally a serial number. The letter E following the number for an anonymous DNA sequence indicates that the sequence is known to be expressed. ...
Feb 1
... Using the genome Studying expression of all genes simultaneously 1.Microarrays: “reverse Northerns” Ephraim L. Tsalik et al. Host gene expression classifiers diagnose acute respiratory illness etiology. Science Translational Medicine 20 Jan 2016:Vol. 8, Issue 322, pp. 322ra11 Used microarrays to co ...
... Using the genome Studying expression of all genes simultaneously 1.Microarrays: “reverse Northerns” Ephraim L. Tsalik et al. Host gene expression classifiers diagnose acute respiratory illness etiology. Science Translational Medicine 20 Jan 2016:Vol. 8, Issue 322, pp. 322ra11 Used microarrays to co ...
Leukaemia Section t(9;12)(q34;p13) ETV6/ABL1 Atlas of Genetics and Cytogenetics in Oncology and Haematology
... The t(9;12)(q34;p13) involves the ETV6 gene (12p13), a transcription factor frequently rearranged in myeloid and lymphoid leukemias. More than 30 ETV6 fusion gene partners have been described. Most translocations involving ETV6 generate fusion genes that lead to the activation of transcription facto ...
... The t(9;12)(q34;p13) involves the ETV6 gene (12p13), a transcription factor frequently rearranged in myeloid and lymphoid leukemias. More than 30 ETV6 fusion gene partners have been described. Most translocations involving ETV6 generate fusion genes that lead to the activation of transcription facto ...
Molecular Evolution
... the rate of substitution was found not to correlate with the severity of the knockout phenotype. To account for differences in function, Hurst and Smith (1999) restricted their analysis exclusively to neuron-specific genes, which have significantly lower rates of substitution than other genes. They ...
... the rate of substitution was found not to correlate with the severity of the knockout phenotype. To account for differences in function, Hurst and Smith (1999) restricted their analysis exclusively to neuron-specific genes, which have significantly lower rates of substitution than other genes. They ...
Identifying essential genes in M. tuberculosis by random
... • Viable insertion within a gene gene is not essential • Essential genes: we will never see a viable insertion • Complication: Insertions in the very distal portion of an essential gene may not be sufficiently disruptive. Thus, we omit from consideration insertion sites within the last 20% and las ...
... • Viable insertion within a gene gene is not essential • Essential genes: we will never see a viable insertion • Complication: Insertions in the very distal portion of an essential gene may not be sufficiently disruptive. Thus, we omit from consideration insertion sites within the last 20% and las ...
Severe loss-of-function variants in the genomes of healthy humans James Harraway, Genetic Pathologist
... with more complete alignments, from increased sequencing of non-human species • Algorithms based on protein structure/function should become more effective, combining effects of substitutions on structure (folding/protein stability/free energy) with information on known ‘vital’ domains (in particula ...
... with more complete alignments, from increased sequencing of non-human species • Algorithms based on protein structure/function should become more effective, combining effects of substitutions on structure (folding/protein stability/free energy) with information on known ‘vital’ domains (in particula ...
Gene Section SSX2IP (synovial sarcoma, X breakpoint 2 interacting protein)
... SSX2IP expression has been seen to be elevated in 33% of acute myeloid leukaemia patient samples at presentation (Guinn et al., 2005). Peak expression on the surface of myeloid leukaemia cells is during mitosis (Denniss et al., 2007). Patients with the t(15;17) translocation have increased levels of ...
... SSX2IP expression has been seen to be elevated in 33% of acute myeloid leukaemia patient samples at presentation (Guinn et al., 2005). Peak expression on the surface of myeloid leukaemia cells is during mitosis (Denniss et al., 2007). Patients with the t(15;17) translocation have increased levels of ...
ab initio and Evidence
... Top hit shows sequence identity of 99.1% between our sequence and the human sequence Next best match has identity of 93.6%, below what we expect for human / chimp orthologs (98.5% identical) ...
... Top hit shows sequence identity of 99.1% between our sequence and the human sequence Next best match has identity of 93.6%, below what we expect for human / chimp orthologs (98.5% identical) ...
1. Explain what is meant by each of the following terms. Gene
... Select one of the crosses and explain how the inheritance of specific alleles could result in the F1 and F2 ratios obtained. Use full genetic diagrams and suitable symbols. ...
... Select one of the crosses and explain how the inheritance of specific alleles could result in the F1 and F2 ratios obtained. Use full genetic diagrams and suitable symbols. ...
FanBLM2
... Maxtrix • Each Row – a gene • Each column – a patient (a sample) • Each patient belong to one of two diseases types: AML(acute myeloid leukemia) or ALL (acute lymph oblastic leukemia) disease • The 72 patient samples are further divided into a training set(including 27 ALLs and 11 AMLs) and a test s ...
... Maxtrix • Each Row – a gene • Each column – a patient (a sample) • Each patient belong to one of two diseases types: AML(acute myeloid leukemia) or ALL (acute lymph oblastic leukemia) disease • The 72 patient samples are further divided into a training set(including 27 ALLs and 11 AMLs) and a test s ...
Solid Tumour Section Liver adenoma Atlas of Genetics and Cytogenetics
... Note: Half of the adenoma cases are mutated for TCF1 gene encoding HNF1a. These mutations are inactivating and both allele are mutated in tumors. Patients with an inherited mutation in one allele of HNF1a may develop maturity onset diabetes of the young type 3 (MODY3) and familial liver adenomatosis ...
... Note: Half of the adenoma cases are mutated for TCF1 gene encoding HNF1a. These mutations are inactivating and both allele are mutated in tumors. Patients with an inherited mutation in one allele of HNF1a may develop maturity onset diabetes of the young type 3 (MODY3) and familial liver adenomatosis ...
Genetics projects 2015
... assay genome-wide promoter interactions at unprecedented resolution. We will generate CHi-C interaction libraries for next generation sequencing from our in vitro cultured endocardial and endothelial cells, with computational and bioinformatics analyses, to integrate findings with our existing genom ...
... assay genome-wide promoter interactions at unprecedented resolution. We will generate CHi-C interaction libraries for next generation sequencing from our in vitro cultured endocardial and endothelial cells, with computational and bioinformatics analyses, to integrate findings with our existing genom ...
Chapter 5_DNA for website
... translation, the information from a gene that has been carried by the nucleotide sequence of an mRNA is read, and ingredients present in the cell’s cytoplasm are used to produce a protein. ...
... translation, the information from a gene that has been carried by the nucleotide sequence of an mRNA is read, and ingredients present in the cell’s cytoplasm are used to produce a protein. ...
080701Genes and chromosomes
... grows, the added or missing genetic information can translate into a wide range of abnormal body structures or functions. Some of the most common conditions ...
... grows, the added or missing genetic information can translate into a wide range of abnormal body structures or functions. Some of the most common conditions ...
4_Hereditary Disorders - V14-Study
... Females may be either heterozygous or homozygous for mutant gene (b/c have two X chromosomes) Disorder may demonstrate either recessive or dominant expression Males will be affected if inherit gene, regardless of dominance (b/c have only one X chromosome) Characteristics of X-linked recessiv ...
... Females may be either heterozygous or homozygous for mutant gene (b/c have two X chromosomes) Disorder may demonstrate either recessive or dominant expression Males will be affected if inherit gene, regardless of dominance (b/c have only one X chromosome) Characteristics of X-linked recessiv ...
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.