BACKGROUND The molecular genetic research showed the association between X-linked hearing loss and mutations in POU3F4. This research aimed to identify a POU3F4 mutation in a nonsyndromic X-linked recessive hearing loss family. METHODS A series of clinical evaluations including medical history, otologic examinations, family history, audiologic testing, and a high-resolution computed tomograph...

In this paper, we study a problem of inferring blood relationships which satisfy a given matrix of genetic distances between all pairs of n nodes. Blood relationships are represented by our proposed graph class, which is called a pedigree graph. A pedigree graph is a directed acyclic graph in which the maximum indegree is at most two. We show that the number of pedigree graphs which satisfy the...

Studying population isolates with large, complex pedigrees has many advantages for discovering genetic susceptibility loci; however, statistical analyses can be computationally challenging. Allelic association tests need to be corrected for relatedness among study participants, and linkage analyses require subdividing and simplifying the pedigree structures. We have extended GenomeSIMLA to simu...

PURPOSE To describe the clinical and imaginological features of two families with Waardenburg syndrome: type I and II, with emphasis on ophthalmic manifestations, as well as the pattern of genetic inheritance. METHODS We conducted a clinical study involving two families affected by Waardenburg syndrome, and through the pedigree, determined the present pattern of genetic inheritance. Analyses ...

OBJECTIVE To investigate the completeness of pedigree and of number of pedigree analysis to know the acceptable familial history in Korean women with ovarian cancer. METHODS Interview was conducted in 50 ovarian cancer patients for obtaining familial history three times over the 6 weeks. The completeness of pedigree is estimated in terms of familial history of disease (cancer), health status ...

Relationship coefficients are traditionally based on pedigree data. Today, with the development of molecular techniques, they are often completely replaced by coefficients calculated from molecular data. Examples are relationships from microsatellites for biodiversity studies but also genomic relationships from SNP as currently used in genomic prediction of breeding values. There are, however, ...

作物の系譜情報は育種を行う上で必要不可欠であり，特に交配親の選定において極めて重要である．しかし，系譜情報の分析基盤や可視化ツールは少なく，育種家は範囲が限定された系譜図を使用せざるを得ない．本研究では，育種や作物データの解析に系譜情報を広く活用するため，系譜情報グラフデータベース「Pedigree Finder」（https://pedigree.db.naro.go.jp/）を構築した．系譜情報を整備するために語彙やデータフォーマットの統一を行うとともに，品種・系統の標準化されたIDを利用することにより，関連するゲノム情報および形質情報との紐づけを可能にした．系譜情報の整備にはデータモデルとしてリソース・ディスクリプション・フレームワーク（Resource Description Framework, RDF）を採用し，共通性と永続性を高めた上で，グラフデータベースを構築した．グ...

Pedigree Types are an intuitive ownership type system requiring minimal programmer annotations. Reusing the vocabulary of human genealogy, Pedigree Types programmers can qualify any object reference with a pedigree – a child, sibling, parent, grandparent, etc – to indicate what relationship the object being referred to has with the referant on the standard ownership tree, following the owners-a...

background: progressive encephalopathy with or without lipodystrophy is a rare autosomal recessive childhood-onset seipin-associated neurodegenerative syndrome, leading to developmental regression of motor and cognitive skills. in this study, we introduce a patient with developmental regression and autism. the causative mutation was found by exome sequencing. methods: the proband showed a gener...

SUMMARY We developed a collaborative pedigree environment called CoPE. This environment includes a Java program for drawing pedigrees and a standardized system for pedigree storage. Unlike other existing pedigree programs, this software is particularly intended for epidemiologists in the sense that it allows customized automatic drawing of large numbers of pedigrees and remote and distributed c...