Understanding recessive disease risk in multi‐ethnic populations with different degrees of consanguinity
LA La Rocca, J Frank, HB Bentzen… - American Journal of …, 2024 - Wiley Online Library
Population medical genetics aims at translating clinically relevant findings from recent
studies of large cohorts into healthcare for individuals. Genetic counseling concerning …
studies of large cohorts into healthcare for individuals. Genetic counseling concerning …
A hybrid design for studying genetic influences on risk of diseases with onset early in life
CR Weinberg, DM Umbach - The American Journal of Human Genetics, 2005 - cell.com
Studies of genetic contributions to risk can be family-based, such as the case-parents
design, or population-based, such as the case-control design. Both provide powerful …
design, or population-based, such as the case-control design. Both provide powerful …
Inbreeding and risk of late onset complex disease
I Rudan, D Rudan, H Campbell, A Carothers… - Journal of medical …, 2003 - jmg.bmj.com
METHODS Study cohort The village populations of three neighbouring islands in the eastern
Adriatic, part of Middle Dalmatia, Croatia (Brac, Hvar, and Korcula, see fig 1), represent well …
Adriatic, part of Middle Dalmatia, Croatia (Brac, Hvar, and Korcula, see fig 1), represent well …
The impact of population heterogeneity on risk estimation in genetic counseling
W Liu, N Icitovic, ML Shaffer, GA Chase - BMC Medical Genetics, 2004 - Springer
Background Genetic counseling has been an important tool for evaluating and
communicating disease susceptibility for decades, and it has been applied to predict risks …
communicating disease susceptibility for decades, and it has been applied to predict risks …
The effect of reproductive compensation on recessive disorders within consanguineous human populations
ADJ Overall, M Ahmad, RA Nichols - Heredity, 2002 - nature.com
We investigate the effects of consanguinity and population substructure on genetic health
using the UK Asian population as an example. We review and expand upon previous …
using the UK Asian population as an example. We review and expand upon previous …
Use of closely related affected individuals for the genetic study of complex diseases in founder populations
C Bourgain, E Genin, P Holopainen… - The American Journal of …, 2001 - cell.com
We propose a method, the maximum identity length contrast (MILC) statistic, to locate
genetic risk factors for complex diseases in founder populations. The MILC approach …
genetic risk factors for complex diseases in founder populations. The MILC approach …
Do consanguineous parents of a child affected by an autosomal recessive disease have more DNA identical-by-descent than similarly-related parents with healthy …
ME Teeuw, L Henneman, Z Bochdanovits… - BMC medical …, 2010 - Springer
Background The offspring of consanguineous relations have an increased risk of
congenital/genetic disorders and early mortality. Consanguineous couples and their …
congenital/genetic disorders and early mortality. Consanguineous couples and their …
Differential impact of consanguineous marriages on autosomal recessive diseases in T unisia
N Ben Halim, S Hsouna, K Lasram… - American Journal of …, 2016 - Wiley Online Library
Objectives Consanguinity is common in Tunisia. However, little information exists on its
impact on recessive disorders. In this study, we evaluate the impact of consanguineous …
impact on recessive disorders. In this study, we evaluate the impact of consanguineous …
Evaluation of genetic risk score models in the presence of interaction and linkage disequilibrium
R Che, AA Motsinger-Reif - Frontiers in genetics, 2013 - frontiersin.org
In the area of genetic epidemiology, genetic risk predictive modeling is becoming an
important area of translational success. As an increasing number of genetic variants are …
important area of translational success. As an increasing number of genetic variants are …
Inferring rare disease risk variants based on exact probabilities of sharing by multiple affected relatives
A Bureau, SG Younkin, MM Parker… - …, 2014 - academic.oup.com
Motivation: Family-based designs are regaining popularity for genomic sequencing studies
because they provide a way to test cosegregation with disease of variants that are too rare in …
because they provide a way to test cosegregation with disease of variants that are too rare in …