Abstract: A method for identifying deleterious genetic mutations, which method relates to the technical field of biomolecules. The method comprises: respectively converting, into density maps, obtained Ramachandran plots of wild-type proteins, benign protein variants, pathogenic protein variants, and proteins to be identified; dividing each density map into a plurality of regions, and by using the density maps of the benign protein variants, the pathogenic protein variants and the wild-type proteins as a reference, calculating an average density and a standard deviation of each region; if the deviation between the density of the proteins to be identified in each region and the average density of the region exceeds the standard deviation, marking the region as a density deviation region of the proteins to be identified; and on the basis of deviation data of the density deviation region of the proteins to be identified, determining mutations of the proteins to be identified.

Abstract: The present invention provides for a method for analyzing large genomes using a process by where the genomic DNA is digested by a small base pair restriction enzyme. The fragments are then cloned and a unique ta-vector-tag is created. The tag-vector-tag fragments are purified and re-ligated to create a “ditag” library, which are then sequenced. In the final step, the sequenced ditags can be mapped back to the genome using software containing mapping algorithms and a unique ditag reference database to provide a method for scanning large portions of the genome in a reduced amount of time and cost.

Abstract: Generation of longer cDNA fragments from SAGE tags for gene identification (GLGI) is disclosed. This method converts SAGE tags, which are about 10 base pairs in length, into their corresponding 3? cDNA fragments covering hundred bases. This added information provides for more accurate genome-wide analysis and overcomes the inherent deficiencies of SAGE. The generation of longer cDNA fragments from isolated and purified protein fragments for gene identification is also disclosed. This method converts a short amino acid sequence into extended versions of the DNA sequences encoding the protein/protein fragment and additional 3? end sequences of the gene encoding the protein. This additional sequence information allows gene identification from purified protein sequences. The invention also provides a high-throughput GLGI procedure for identifying genes corresponding to a set of unidentified SAGE tags.

Abstract: The invention provides materials and methods for the analysis of gene expression in hematopoietic cells, such as hematopoietic stem/precursor cells of mammals. Materials of the invention include microarrays of polynucleotides collectively characterizing gene expression in hematopoietic cells, as well as a vector comprising at least one such polynucleotide and a host cell containing such a vector. Methods of the invention include diagnostic methods for identifying or detecting expression products collectively characteristic of normal, or abnormal, hematopoietic cells. Other methods of the invention include therapeutic methods for the treatment or prevention of an abnormality such as a disease or condition of a hematopoietic cell, comprising delivery of an effective amount of a suitable material, such as a pharmaceutical composition of the invention, to a cell or patient in need thereof.

Abstract: Generation of longer cDNA fragments from SAGE tags for gene identification (GLGI) is disclosed. This method converts SAGE tags, which are about 10 base pairs in length, into their corresponding 3′ cDNA fragments covering hundred bases. This added information provides for more accurate genome-wide analysis and overcomes the inherent deficiencies of SAGE. The generation of longer cDNA fragments from isolated and purified protein fragments for gene identification is also disclosed. This method converts a short amino acid sequence into extended versions of the DNA sequences encoding the protein/protein fragment and additional 3′ end sequences of the gene encoding the protein. This additional sequence information allows gene identification from purified protein sequences. The invention also provides a high-throughput GLGI procedure for identifying genes corresponding to a set of unidentified SAGE tags.