Results 51 to 60 of about 133,224 (273)
Prenatal Diagnosis, Volume 42, Issue 13, Page 1612-1621, December 2022., 2022 Abstract Objective Noninvasive Prenatal Diagnosis has recently been introduced for a limited number of monogenetic disorders. However, the majority of DNA diagnostics still require fetal material obtained using an invasive test. Recently, a novel technique, TRIC (Trophoblast Retrieval and Isolation from the Cervix), has been described, which collects ...
Marie van Dijk +8 more
wiley +1 more source
On the Complexity of Several Haplotyping Problems [PDF]
arXiv, 2005 In this paper we present a collection of results pertaining to haplotyping. The first set of results concerns the combinatorial problem of reconstructing haplotypes from incomplete and/or imperfectly sequenced haplotype data. More specifically, we show that an interesting, restricted case of Minimum Error Correction (MEC) is NP-hard, point out problems
arxiv
On the Complexity of the Single Individual SNP Haplotyping Problem [PDF]
, 2005 We present several new results pertaining to haplotyping. These results concern the combinatorial problem of reconstructing haplotypes from incomplete and/or imperfectly sequenced haplotype fragments. We consider the complexity of the problems Minimum Error Correction (MEC) and Longest Haplotype Reconstruction (LHR) for different restrictions on the ...
arxiv +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic germline variants in the APC gene result in familial adenomatous polyposis (FAP) which can escalate into colon cancer. Standard clinical testing failed to identify pathogenic variants in a 4‐generation FAP family. We identified and assessed co‐segregation of a 5′ untranslated region (UTR) variant, NM_001127511.3 (APC) c.‐40G>A ...
Brendon Young +9 more
wiley +1 more source
Pedigree reconstruction for triploid apple cultivars using single nucleotide polymorphism array data
PLANTS, PEOPLE, PLANET, Volume 5, Issue 1, Page 98-111, January 2023., 2023 Many economically, culturally, and historically important apple cultivars are triploids, which have three copies of each chromosome instead of the more typical two copies in diploids. Despite their prevalence and importance, there have been conflicting reports regarding their origin and their ability to beget diploids.
Nicholas P. Howard +7 more
wiley +1 more source
Haplotypes versus Genotypes on Pedigrees [PDF]
Algorithms for Molecular Biology, 2010 Genome sequencing will soon produce haplotype data for individuals. For pedigrees of related individuals, sequencing appears to be an attractive alternative to genotyping. However, methods for pedigree analysis with haplotype data have not yet been developed, and the computational complexity of such problems has been an open question.
Bonnie Kirkpatrick, Bonnie Kirkpatrick
openaire +6 more sources
ComHapDet: A Spatial Community Detection Algorithm for Haplotype Assembly [PDF]
arXiv, 2019 Background: Haplotypes, the ordered lists of single nucleotide variations that distinguish chromosomal sequences from their homologous pairs, may reveal an individual's susceptibility to hereditary and complex diseases and affect how our bodies respond to therapeutic drugs. Reconstructing haplotypes of an individual from short sequencing reads is an NP-
arxiv
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Externalizing traits and behaviors are broadly defined by impairments in self‐regulation and impulse control that typically begin in childhood and adolescence. Externalizing behaviors, traits, and symptoms span a range of traditional psychiatric diagnostic categories.
India A. Reddy +5 more
wiley +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT A large proportion of patients undergoing cognitive behavior therapy (CBT) for obsessive‐compulsive disorder (OCD) do not respond sufficiently to treatment. Identifying predictors for change in symptom severity after treatment could inform clinical decision‐making, allow for better‐tailored interventions, and avoid treatment failure.
Julia Bäckman +39 more
wiley +1 more source
Haplotype-based variant detection from short-read sequencing [PDF]
arXiv, 2012 The direct detection of haplotypes from short-read DNA sequencing data requires changes to existing small-variant detection methods. Here, we develop a Bayesian statistical framework which is capable of modeling multiallelic loci in sets of individuals with non-uniform copy number.
arxiv