Abstract: A computer-implemented method is discussed that includes identifying, by a computer server system, stored electronic data that represents genetic sequencing for one or more genes for individuals in a population of patients who have submitted to genetic sequencing; generating, for each of multiple individuals and from the stored electronic data, probability data for the individuals and probability or weighting data, or both, for relatives of the individuals, the probability data representing likelihoods that a particular person corresponding to the probability data carries a deleterious mutation in a particular gene; and generating a score for a genetic variant, wherein the score is a function of probability or weighting data, or both, for the individuals and for relatives of the individuals, and the score represent a composite probability that a certain variant is a deleterious or benign variant.

Abstract: Large deletions have been identified in the PMS2 gene in patients. The large deletions predispose the patients to Lynch syndrome associated cancers. Thus, methods for detecting the genetic variants are provided which can be used in detecting a predisposition to cancer.

Abstract: A description of an isolated CMTIA-REP sequence and DNA probes to the sequence. Methods for the use of such sequences and probes to detect peripheral neuropathies. A method for detecting Charcot-Marie-Tooth disease type 1 by measuring the presence or absence of a DNA duplication in a gene locus associated with the CMTIA-REP sequence. A method for detecting Hereditary Neuropathy with Liability to Pressure Palsies by measuring the presence or absence of a DNA deletion in a gene locus associated with the CMTIA-REP sequence.