Varying depth of high-throughput sequencing reads along a chromosome makes it possible to observe copy number variants (CNVs) in a sample relative to a reference. In exome and other targeted sequencing projects, technical factors increase variation in read depth while reducing the number of observed locations, adding difficulty to the problem of identifying CNVs. We present a hidden Markov mode...

OBJECTIVE To develop and critically evaluate an information theory method for identifying gene-gene and gene-environment interactions in count and rate data. METHODS The entropy-based metric k-way interaction information (KWII) was critically assessed for utility in detecting interactions with count data and over-dispersed count data in three simulation studies of increasing complexity and in...

We have screened the nearly complete DNA sequence of the human Y chromosome for microsatellites (short tandem repeats) that meet the criteria of having a repeat-unit size of > or = 3 and a repeat count of > or = 8 and thus are likely to be easy to genotype accurately and to be polymorphic. Candidate loci were tested in silico for novelty and for probable Y specificity, and then they were tested...

A cytogenetic survey of the complete population of mentally subnormal in the North-East of Scotland has been undertaken. A register for the mentally subnormal within the region already existed, and all persons recorded, whether they resided at home or in subnormality hospitals or other institutional care, were included. The total number recorded was 3020 and of these 2770 were examined cytologi...

The main objective of the present study was to develop an efficient and reliable probe to be routinely used for detection of chromosome 13 copy numbers by interphase FISH. To achieve this, a Yeast Artificial Chromosome (YAC) containing sequences specific for human 13q12 (744D11), was cultured and the whole yeast genomic DNA was extracted. The human insert within the isolated DNA was amplified b...

A 38-y-old woman with Down syndrome was admitted to hospital for investigation of a 6-mo history of anorexia and weight loss of 40 lbs. Six months prior to admission, her weight was 175 lbs, and her body mass index was 36. On admission, her complete blood count was normal, but over a 2-wk period she developed acute pancytopenia (Figure 1). During this acute episode, her lowest hematological par...

Comprehensive studies on meiotic behavior and pollen biology of a species are crucial for its conservation strategies. The presence bottlenecks directly or indirectly influences the reproductive success plant species. present study records chromosome number, male behavior, seed set, viability, germination in two populations Swertia thomsonii, an important medicinal Himalaya. count recorded both...

Intraspecific variation in social organization is common, yet the underlying causes are rarely known. An exception is the fire ant Solenopsis invicta in which the existence of two distinct forms of social colony organization is under the control of the two variants of a pair of social chromosomes, SB and Sb. Colonies containing exclusively SB/SB workers accept only one single queen and she must...

Direct determination of chromosome number in Saccharomyces is advantageous in the further development of yeast genetics. The enumeration of centromeres by deductions from tetrad analysis sets a minimum chromosome number (Lindegren, 1949; Lindegren and Lindegren, 1951b), but interchromosomal linkage (Shult and Lindegren, 1955) introduces complexities into the deduction of chromosomal numbers fro...

Complex chromosomal rearrangements are very rare events in the human population. According to our knowledge on the consequences of simple reciprocal translocations for male fertility, translocations involving three or more chromosomes are thought to lead to severe reproductive impairments in terms of meiotic disturbance or chromosomal imbalance of gametes. We report the case of a 48 year old ma...