Abstract
The Swedish Multi-generation Register consists of data of more than nine million individuals, with information available on mothers in 97% and on fathers in 95% of index persons. Index persons are confined to those born from 1932 onwards and those alive on January 1, 1961. This register is a unique...
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PMID: 20949391
PDF is available here.
Abstract
An international team of paleontologists reports in Science an early hominid species, Ardipithecus ramidus and its environment. The features are shared by Sahelanthropus tchadensis, and these similarities confirm that Sahelanthropus is not an extinct ape. They help us bridge the more recent part of...
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PMID: 20346283
PDF is available here.
Abstract
The OOA are a closed founder population in which a modest number of founders account for the genetic variation present in the current OOA population. Improvements to the PedHunter software will be useful in future studies of both the OOA and other populations with large and computerized genealogies....
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PMID: 20433770
PDF is available here.
Abstract
Interrelations exist between people's behaviour and the reasons for it as explained by culture. The healthcare theory put forward by the American nurse Madeleine Leininger, at the end of the 1970s, integrates anthropology Identifying and understanding the patient's culture enables nursing care to be...
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PMID: 20799484
PDF is available here.
Abstract
South Africa, like many other Southern African countries, has one of the highest HIV infection rates in the world and many individuals consequently receive antiretroviral therapy (ART). However, knowledge regarding (i) the prevalence of functional single nucleotide polymorphisms (SNPs) in pharmacolo...
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PMID: 19282874
PDF is available here.
Abstract
We explored Moken origin(s) and affinities by comparing whole mitochondrial genome and hypervariable segment I sequences from 12 Moken individuals, sampled from four islands of the Mergui Archipelago, to other mainland Asian, Island Southeast Asian (ISEA) and Oceanic populations. These analyses reve...
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PMID: 19158811
PDF is available here.
Abstract
Lessons in personal genome analysis, social networking or health information?
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PMID: 19591645
PDF is available here.
Abstract
We have analyzed mitochondrial and Y chromosome DNA polymorphisms of 169 unrelated individuals from Khanty and Mansi ethnic groups in Northwest Siberia. In addition, HVS-I sequences (N = 3522) and Y chromosome SNP data (N = 2175), obtained from the literature, were used to elucidate the genetic rela...
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PMID: 18506205
PDF is available here.
Abstract
I characterize these divergent perspectives as 'pragmatism' and 'naturalism'. Drawing upon ethnographic fieldwork and interviews, I argue that neither position fully accounts for how understandings of 'race' and ethnicity are being transformed with genetic genealogy testing. While there is some acqu...
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PMID: 19227820
PDF is available here.
T E F Webb,
M Poulter,
J Beck,
J Uphill,
G Adamson,
T Campbell,
J Linehan,
C Powell,
S Brandner,
S Pal,
D Siddique,
J D Wadsworth,
S Joiner,
K Alner,
C Petersen,
S Hampson,
C Rhymes,
C Treacy,
E Storey,
M D Geschwind,
A H Nemeth,
S Wroe,
J Collinge and
S Mead
Abstract
We have collected data from 84 patients in the large UK kindred and numerous small unrelated pedigrees to investigate phenotypic heterogeneity and modifying factors. This collection represents by far the largest series of P102L patients so far reported. Microsatellite and genealogical analyses of ei...
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PMID: 18757886
PDF is available here.
Abstract
Surnames must be used as population markers with reservation. The genetic evidence indicates that traditional genealogies based on surnames with or without documental support, may be inconsistant with their biological provenance....
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PMID: 19034359
PDF is available here.
Abstract
We propose to use experimental populations, where the initial state is entirely known and some intermediate states have been thoroughly surveyed, thus providing a short timescale estimation together with a large number of cumulated meioses. In this article, we derived four original gene genealogy-ba...
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PMID: 18689900
PDF is available here.
Abstract
We present a pedigree-splitting method that, within a user supplied bit-size limit, identifies subpedigrees having the maximal number of subjects of interest (eg patients) who share a common ancestor. We compare our method with the maximum clique partitioning method using a large and complex human p...
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PMID: 18301450
PDF is available here.
Abstract
I present here is a rapid computational method for estimating, in large complex pedigrees, the probability that pairs of alleles are IBD given the single-point genotype data at that marker for all individuals. The method can be used on pedigrees of essentially arbitrary size and complexity without t...
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PMID: 18622032
PDF is available here.
Abstract
I using phylogenetic approaches and haplotype networking revealed a clear structure of European samples, forming three distinct and genetically distant clades with different host specificities. Although a clear connection was detected between the host and parasite genealogies/phylogenies, a uniform...
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PMID: 18021782
PDF is available here.
Abstract
I present a new approach for calculating probabilities of identity by descent for pairs of haplotypes. The approach is based on a joint hidden Markov model for haplotype frequencies and identity by descent (IBD). This model allows for linkage disequilibrium, and the method can be applied to very den...
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PMID: 18430938
PDF is available here.
Abstract
SUMMARY: An efficient tool for mining complex inbred genealogies that identify clusters of individuals sharing the same expected amount of relatedness is described. Additionally it allows for the reconstruction of sub-pedigrees suitable for genetic mapping in a systematic way. AVAILABILITY: http://w...
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PMID: 18222918
PDF is available here.
Abstract
We sequenced GNPTAB exons in 27 parents of 16 MLII-deceased children from the SLSJ region as obligatory and potential carriers. We also performed a genealogical reconstruction for each parent to evaluate consanguinity levels and genetic contribution of ancestors. Our goal was to identify which param...
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PMID: 18190596
PDF is available here.
Abstract
Heredity can be followed in persons or in genes. Persons can be identified only a few generations back, but simplified models indicate that universal ancestors to all now living persons have occurred in the past. Genetic variability can be characterized as variants of DNA sequences. Data are availab...
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PMID: 18439230
PDF is available here.
Abstract
The roles of fossil human populations in the origin of modern humans have been enigmatic. Earlier (archaic) human populations were biologically similar and were in recurrent temporal and geographic contact, making interbreeding between ancient populations likely. Regardless of the taxonomic status o...
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PMID: 18063439
PDF is available here.
Doron M DM Behar,
Ene E Metspalu,
Toomas T Kivisild,
Saharon S Rosset,
Shay S Tzur,
Yarin Y Hadid,
Guennady G Yudkovsky,
Dror D Rosengarten,
Luisa L Pereira,
Antonio A Amorim,
Ildus I Kutuev,
David D Gurwitz,
Batsheva B Bonne-Tamir,
Richard R Villems and
Karl K Skorecki
Abstract
We ask whether phylogenetic analysis, based on highly resolved mitochondrial DNA (mtDNA) phylogenies can discern among maternal ancestries of the Diaspora. Accordingly, 1,142 samples from 14 different non-Ashkenazi Jewish communities were analyzed. A list of complete mtDNA sequences was established...
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PMID: 18446216
PDF is available here.
Abstract
dHPLC seems to be sensitive enough to detect small amounts of fetal DNA in maternal plasma samples. It could be a useful tool for the noninvasive prenatal detection of paternally inherited point mutations associated with retinopathies....
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PMID: 18682814
PDF is available here.
Abstract
We suggest a simple deterministic approximation for the growth of the favored-allele frequency during a selective sweep. Using this approximation we introduce an accurate model for genetic hitchhiking. Only when Ns<10 (N is the population size and s denotes the selection coefficient) are discrepanci...
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PMID: 18202386
PDF is available here.
Abstract
We address this hypothesis by resequencing the 2.4-kb RRM2P4 region in 131 African and 122 non-African individuals and by extending the length of sequence in a window of 16.5 kb encompassing the RRM2P4 pseudogene in a subset of 90 individuals. We find that both the ancient TMRCA and the skew in non-...
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PMID: 18202385
PDF is available here.
Abstract
Recent studies of human population genetic variation show that while race captures some information about genetic ancestry, particularly in US populations, it often fails to account for admixture and population structure. Ancestry is more accurately inferred by geographical origin or, better yet, ex...
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PMID: 18025926
PDF is available here.
Abstract
We report the results of a large-scale admixture scan for genes contributing HTN risk, in which we screened 1,670 African Americans with HTN and 387 control individuals for regions of the genome with elevated proportion of African or European ancestry. No loci were identified that were significantly...
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PMID: 18020707
PDF is available here.
Abstract
We consider this question using explicit modelling of the pedigrees and gene flows at unlinked marker loci, but then restricting ourselves to a relatively recent history of the population, that is, considering the genealogy at most some tens of generations backwards in time. As a computational tool...
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PMID: 17681576
PDF is available here.
Abstract
We present a framework and results that give the structure of G under the assumption of neutrality. We suggest that a neutral expectation of the structure of G is important because it gives a null expectation for the structure of G from which the unique consequences of selection can be determined. W...
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PMID: 17339224
PDF is available here.
J Fuchs,
C Nilsson,
J Kachergus,
M Munz,
E-M Larsson,
B Schüle,
J W Langston,
F A Middleton,
O A Ross,
M Hulihan,
T Gasser and
M J Farrer
Abstract
The proband of the Swedish family branch presented with early dysautonomia followed by progressive parkinsonism suggestive of multiple system atrophy. Molecular analysis identified a genomic duplication of <0.9 Mb encompassing alpha-synuclein and multimerin 1 (SNCA-MMRN1), flanked by long interspers...
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PMID: 17251522
PDF is available here.
Abstract
We describe an approach in which Markov chain Monte Carlo simulations are used to integrate over the space of genealogies, whereas other parameters are integrated out analytically. The result is an approximation to the full joint posterior density of the model parameters. For many purposes, this fun...
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PMID: 17301231
PDF is available here.
Abstract
We were not able to show any biological relationship for uniparentally transmitted markers.
Copyright 2006 Wiley-Liss, Inc....
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PMID: 17133438
PDF is available here.
Abstract
We show here that not accounting for the ascertainment of loci in such analyses leads to false inference of natural selection when the true model is selective neutrality, because the procedure of choosing unusual loci (in comparison to the rest of the genome-scan data) selects regions of the genome...
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PMID: 17110489
PDF is available here.
Abstract
We show that parents in a preindustrial population in North America incurred fitness costs from reproduction, and women incurred greater costs than men. We examined the survivorship and reproductive success (Darwinian fitness) of 21,684 couples married between 1860 and 1895 identified in the Utah Po...
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PMID: 17192400
PDF is available here.
Abstract
Five of the 582 Southwestern American Indian respondents (prevalence = 8.6 per 1000), and one of the 331 interviewed Plains American Indians (prevalence = 3.02 per 1000) had a lifetime diagnosis of schizophrenia. The lifetime prevalence rates of schizophrenia within these two distinct American India...
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PMID: 17598920
PDF is available here.
Abstract
We review fine-mapping methods that model the shared ancestry of sampled chromosomes explicitly, using the coalescent process, resulting in greater accuracy and precision to localize functional polymorphisms than approaches that treat individuals as unrelated....
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PMID: 17984542
PDF is available here.
Abstract
We identify the regulatory function of the 'gaze', professional codes and government policy in relation to restricting professional practices. We argue that observation can be related to moral therapy, wherein the person relinquishes madness for responsibility through a disciplinary process and, in...
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PMID: 17087674
PDF is available here.
Abstract
We discuss an alternative method that approximates the genealogy by a random binary splitting tree, a so-called Yule tree that does not require first constructing a frequency path. Compared to the coalescent in a logistic background, this method gives a slightly better approximation for identity by...
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PMID: 17182733
PDF is available here.
Abstract
We show that failure to take into account the distant loops may seriously underestimate the degree of consanguinity, especially for people from genetically isolated populations; in 6 Alzheimer's disease (AD) patients the distant loops accounted for 57.7 % of inbreeding on average. Theoretical evalua...
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PMID: 17044871
PDF is available here.
Abstract
We have used genealogies and genomic polymorphisms to estimate individual inbreeding coefficients (F) in 50 subjects with an expected range (based on recent genealogies) of F from 0.0 to 0.0625. The estimates were based on two approaches, using genotypes respectively from 410 microsatellite markers...
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PMID: 16907711
PDF is available here.
Abstract
We make use of an expressed sequence tag (EST) database to perform nuclear (nDNA) and mitochondrial (mtDNA) genealogical tests of species boundaries in Ambystoma ordinarium, a member of an adaptive radiation of metamorphic and paedomorphic salamanders (the Ambystoma tigrinum complex) that have diver...
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PMID: 16842422
PDF is available here.
Abstract
We first used Geometric Morphometrics, GM, to quantify morphological similarity and then subsequently used Amplified Fragment Length Polymorphism, AFLP, to determine if similar morphologies imply shared ancestry or convergent evolution. GM revealed that not all presumed morphological similar pairs w...
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PMID: 16631390
PDF is available here.
Abstract
We have analysed 89 grape cultivars with 60 microsatellite markers in order to accurately calculate the identity-by-descent (IBD) and relatedness (r) coefficients among six putatively related cultivars from France ("Pinot", "Syrah" and "Dureza") and northern Italy ("Teroldego", "Lagrein" and "Marzem...
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PMID: 16721391
PDF is available here.
Abstract
I propose an estimator that considers the entire genealogy of all of the sampled genes and infers admixture proportions from the numbers of segregating sites in DNA sequence samples. By considering the genealogy of all sequences rather than pairs of sequences, this new estimator also allows the join...
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PMID: 16624918
PDF is available here.
Abstract
Identification of clusters and large families affected by a classic form of CAVS demonstrates a familial aggregation for this disease....
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PMID: 16461814
PDF is available here.
Abstract
We present a general approach for evaluating and visualizing evolutionary dynamics of self-replicators using a graph-based representation for genealogy. Through a transformation from the space of species and mutations to the space of nodes and links, evolutionary dynamics are understood as a flow in...
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PMID: 16539770
PDF is available here.
Abstract
The observation that declines in the human secondary sex ratio (SSR) may be linked to stressful periconceptional periods has received considerable attention (Catalano [2003] Hum Reprod 18:1972-1975; Catalano et al. [2005] Int J Epidemiol 34:944-948, [2005] Hum Reprod 20:1221-1227, [2005] Paediatr Pe...
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PMID: 17039472
PDF is available here.
Abstract
The RR for dying with ESRD among the first-degree relatives of individuals dying with ESRD is estimated to be 10.1 (p = 0.0007, 95% confidence interval CI 2.76-25.95), but is not significantly elevated among second-degree relatives. The RR for dying with non-ESRD CKD among first- and second-degree r...
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PMID: 16557020
PDF is available here.