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The genetic history of Greenlandic-European contact.

Curr Biol 2021 Mar 9. Epub 2021 Mar 9.

Section for Computational and RNA Biology, Department of Biology, University of Copenhagen, Copenhagen, Denmark. Electronic address:

The Inuit ancestors of the Greenlandic people arrived in Greenland close to 1,000 years ago. Since then, Europeans from many different countries have been present in Greenland. Consequently, the present-day Greenlandic population has ∼25% of its genetic ancestry from Europe. Read More

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Human arrival and landscape dynamics in the northern Bahamas.

Proc Natl Acad Sci U S A 2021 Mar;118(10)

Department of Oceanography, Texas A&M University, College Station, TX 77550.

The first Caribbean settlers were Amerindians from South America. Great Abaco and Grand Bahama, the final islands colonized in the northernmost Bahamas, were inhabited by the Lucayans when Europeans arrived. The timing of Lucayan arrival in the northern Bahamas has been uncertain because direct archaeological evidence is limited. Read More

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The burden of infertility in New Zealand: A baseline survey of prevalence and service use.

Aust N Z J Obstet Gynaecol 2021 Feb 28. Epub 2021 Feb 28.

Department of Women's and Children's Health, University of Otago, Dunedin, New Zealand.

Background: Studies in southern New Zealand indicate that up to a quarter of women experienced infertility, likely due to delay in childbearing. However, these findings may not be generalisable to the whole population.

Aims: To assess the lifetime prevalence of infertility and evidence for disparities for New Zealand men and women in a nationally representative sample. Read More

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February 2021

A longitudinal study on social support, social participation, and older Europeans' Quality of life.

SSM Popul Health 2021 Mar 3;13:100747. Epub 2021 Feb 3.

Department of Epidemiology and Global Health, Umeå University, Umeå, 90187, Sweden.

The association between quality of life (QoL) and social relationships is well established. This paper further analyses whether and how participation in social activities as well as providing and receiving social support, independently, are associated with QoL among the older population in 16 European countries. QoL was measured using the CASP-12 scale. Read More

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Polygenic hazard score is associated with prostate cancer in multi-ethnic populations.

Nat Commun 2021 02 23;12(1):1236. Epub 2021 Feb 23.

Department of Radiation Medicine and Applied Sciences, University of California San Diego, La Jolla, CA, USA.

Genetic models for cancer have been evaluated using almost exclusively European data, which could exacerbate health disparities. A polygenic hazard score (PHS) is associated with age at prostate cancer diagnosis and improves screening accuracy in Europeans. Here, we evaluate performance of PHS (PHS, adapted for OncoArray) in a multi-ethnic dataset of 80,491 men (49,916 cases, 30,575 controls). Read More

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February 2021

Healthy life expectancy by frailty state in Europe from 2004 to 2015: findings from SHARE.

Eur J Public Health 2021 Feb 22. Epub 2021 Feb 22.

Unit of Epidemiology, Biostatistics and Biodemography, Department of Public Health, University of Southern Denmark, Odense, Denmark.

Background: As populations age, the possible consequences of increased frailty are a major concern for the health sector. Here, we investigate how life expectancy with and without frailty has changed during a 10-11-year-period across Europe.

Methods: The Sullivan method was used to investigate changes in life expectancy with and without frailty in 10 European countries. Read More

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February 2021

Later Stone Age human hair from Vaalkrans Shelter, Cape Floristic Region of South Africa, reveals genetic affinity to Khoe groups.

Am J Phys Anthropol 2021 Apr 4;174(4):701-713. Epub 2021 Feb 4.

Human Evolution, Department of Organismal Biology, Uppsala University, Uppsala, Sweden.

Previous studies show that the indigenous people of the southern Cape of South Africa were dramatically impacted by the arrival of European colonists starting ~400 years ago and their descendants are today mixed with Europeans and Asians. To gain insight on the occupants of the Vaalkrans Shelter located at the southernmost tip of Africa, we investigated the genetic make-up of an individual who lived there about 200 years ago. We further contextualize the genetic ancestry of this individual among prehistoric and current groups. Read More

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Patients with rare endocrine conditions have corresponding views on unmet needs in clinical research.

Endocrine 2021 Mar 3;71(3):561-568. Epub 2021 Feb 3.

Department of Paediatric Endocrinology, Ghent University Hospital, and Ghent University, Ghent, Belgium.

Purpose: European Reference Network on Rare Endocrine Conditions' (Endo-ERN) mission is to reduce and ultimately abolish inequalities in care for patients with rare endocrine conditions in Europe. This study assesses which themes related to rare endocrine conditions are prioritized by patients for clinical research.

Methods: A survey was developed, translated into 22 different European languages, and distributed to patients with rare endocrine conditions. Read More

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Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women.

Nat Commun 2021 01 28;12(1):654. Epub 2021 Jan 28.

Epidemiology and Public Health Group, Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.

Low muscle strength is an important heritable indicator of poor health linked to morbidity and mortality in older people. In a genome-wide association study meta-analysis of 256,523 Europeans aged 60 years and over from 22 cohorts we identify 15 loci associated with muscle weakness (European Working Group on Sarcopenia in Older People definition: n = 48,596 cases, 18.9% of total), including 12 loci not implicated in previous analyses of continuous measures of grip strength. Read More

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January 2021

Mitochondrial haplogroup J associated with higher risk of obesity in the Qatari population.

Sci Rep 2021 Jan 13;11(1):1091. Epub 2021 Jan 13.

Genetics and Bioinformatics Department, Dasman Diabetes Institute, Kuwait City, Kuwait.

Obesity, a major risk factor for metabolic disorders, is highly prevalent in Qatari population. Maternal transmission of obesity traits can be significant; for example, X haplogroup is known to be associated with lower BMI and body fat mass in Northern Europeans and T haplogroup which is a sister haplogroup of J is known to be associated with obesity in Caucasian subjects from Austria and Southern Italy. We aimed to delineate the mitochondrial haplogroups and variants associated with obesity in Qatari population. Read More

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January 2021

What is the Prevalence of Low Health Literacy in European Union Member States? A Systematic Review and Meta-analysis.

J Gen Intern Med 2021 Mar 5;36(3):753-761. Epub 2021 Jan 5.

Department of Public Health and Infectious Diseases, Sapienza University of Rome, Rome, Italy.

Background: Many studies have shown that low health literacy (HL) is associated with several adverse outcomes. In this study, we systematically reviewed the prevalence of low HL in Europe.

Methods: PubMed, Embase, and Scopus were searched. Read More

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Differences and determinants of vitamin D deficiency among UK biobank participants: A cross-ethnic and socioeconomic study.

Clin Nutr 2020 Nov 25. Epub 2020 Nov 25.

Australian Centre for Precision Health, Unit of Clinical and Health Sciences, University of South Australia, Adelaide, Australia; South Australian Health and Medical Research Institute, Adelaide, Australia. Electronic address:

Background: The public health relevance of true vitamin D deficiency is undisputed, although controversy remains regarding optimal vitamin D status. Few contemporary cross-ethnic studies have investigated the prevalence and determinants of very low 25-hydroxyvitamin D [25(OH)D] concentrations.

Methods: We conducted cross-ethnic analyses on the prevalence and determinants of vitamin D deficiency (25(OH)D ≤ 25 nmol/L) using data from 440,581 UK Biobank participants, of which 415,903 identified as White European, 7880 Asian, 7602 Black African, 1383 Chinese, and 6473 of mixed ancestry. Read More

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November 2020

Craniofacial and mandibular variation in colonial populations of the southern Andes during the 16 to 19 centuries.

Homo 2020 Nov;71(4):317-329

FFyL (UNCuyo), CIRSF (Área Fundacional de Mendoza), CONICET.

The purpose of this paper is to analyze the morphological variation of human populations that inhabited the southern Andes (Mendoza city, Argentina) during 16 to 19 centuries. That period represents an encounter of several distinctive populations inhabiting the same area: Europeans, descendants from Europeans (), Africans, and Native Americans. In this paper, we study the shape changes of the cranial base, cranial vault, facial skeleton, and mandible to evaluate if the craniofacial variation differs in relation to the colonial periods and burial areas. Read More

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November 2020

Youth and non-European ethnicity are associated with increased loss of publicly funded insulin pump access in New Zealand people with type 1 diabetes.

Diabet Med 2021 Jan 17;38(1):e14450. Epub 2020 Nov 17.

Paediatric Endocrinology, Southern District Health Board, Dunedin, New Zealand.

Aims: Continuous subcutaneous insulin infusion (CSII) has been publicly funded in New Zealand for people living with type 1 diabetes since 2012. The aim of the current study was to investigate the loss of access, once obtained, to public-funded CSII. The frequency and socio-demographics of access, and loss, to CSII spanning the period 2012 to 2018 were examined. Read More

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January 2021

Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk.

Authors:
Iris Kramer Maartje J Hooning Nasim Mavaddat Michael Hauptmann Renske Keeman Ewout W Steyerberg Daniele Giardiello Antonis C Antoniou Paul D P Pharoah Sander Canisius Zumuruda Abu-Ful Irene L Andrulis Hoda Anton-Culver Kristan J Aronson Annelie Augustinsson Heiko Becher Matthias W Beckmann Sabine Behrens Javier Benitez Marina Bermisheva Natalia V Bogdanova Stig E Bojesen Manjeet K Bolla Bernardo Bonanni Hiltrud Brauch Michael Bremer Sara Y Brucker Barbara Burwinkel Jose E Castelao Tsun L Chan Jenny Chang-Claude Stephen J Chanock Georgia Chenevix-Trench Ji-Yeob Choi Christine L Clarke J Margriet Collée Fergus J Couch Angela Cox Simon S Cross Kamila Czene Mary B Daly Peter Devilee Thilo Dörk Isabel Dos-Santos-Silva Alison M Dunning Miriam Dwek Diana M Eccles D Gareth Evans Peter A Fasching Henrik Flyger Manuela Gago-Dominguez Montserrat García-Closas José A García-Sáenz Graham G Giles David E Goldgar Anna González-Neira Christopher A Haiman Niclas Håkansson Ute Hamann Mikael Hartman Bernadette A M Heemskerk-Gerritsen Antoinette Hollestelle John L Hopper Ming-Feng Hou Anthony Howell Hidemi Ito Milena Jakimovska Anna Jakubowska Wolfgang Janni Esther M John Audrey Jung Daehee Kang C Marleen Kets Elza Khusnutdinova Yon-Dschun Ko Vessela N Kristensen Allison W Kurian Ava Kwong Diether Lambrechts Loic Le Marchand Jingmei Li Annika Lindblom Jan Lubiński Arto Mannermaa Mehdi Manoochehri Sara Margolin Keitaro Matsuo Dimitrios Mavroudis Alfons Meindl Roger L Milne Anna Marie Mulligan Taru A Muranen Susan L Neuhausen Heli Nevanlinna William G Newman Andrew F Olshan Janet E Olson Håkan Olsson Tjoung-Won Park-Simon Julian Peto Christos Petridis Dijana Plaseska-Karanfilska Nadege Presneau Katri Pylkäs Paolo Radice Gad Rennert Atocha Romero Rebecca Roylance Emmanouil Saloustros Elinor J Sawyer Rita K Schmutzler Lukas Schwentner Christopher Scott Mee-Hoong See Mitul Shah Chen-Yang Shen Xiao-Ou Shu Sabine Siesling Susan Slager Christof Sohn Melissa C Southey John J Spinelli Jennifer Stone William J Tapper Maria Tengström Soo Hwang Teo Mary Beth Terry Rob A E M Tollenaar Ian Tomlinson Melissa A Troester Celine M Vachon Chantal van Ongeval Elke M van Veen Robert Winqvist Alicja Wolk Wei Zheng Argyrios Ziogas Douglas F Easton Per Hall Marjanka K Schmidt

Am J Hum Genet 2020 11 5;107(5):837-848. Epub 2020 Oct 5.

The Netherlands Cancer Institute - Antoni van Leeuwenhoek Hospital, Division of Molecular Pathology, Amsterdam 1066 CX, the Netherlands; The Netherlands Cancer Institute - Antoni van Leeuwenhoek hospital, Division of Psychosocial Research and Epidemiology, Amsterdam 1066 CX, the Netherlands. Electronic address:

Previous research has shown that polygenic risk scores (PRSs) can be used to stratify women according to their risk of developing primary invasive breast cancer. This study aimed to evaluate the association between a recently validated PRS of 313 germline variants (PRS) and contralateral breast cancer (CBC) risk. We included 56,068 women of European ancestry diagnosed with first invasive breast cancer from 1990 onward with follow-up from the Breast Cancer Association Consortium. Read More

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November 2020

Prevalence of Huntington's disease in Southern Sardinia, Italy.

Parkinsonism Relat Disord 2020 11 14;80:54-57. Epub 2020 Sep 14.

Neurology Unit, Azienda Ospedaliero-Universitaria, Cagliari, Italy; Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy.

Background: The frequency of Huntington's disease (HD) may vary considerably, with higher estimates in non Asian populations. In Italy, two recent studies performed in Ferrara county and Molise provided different prevalence estimates, varying from 4.2 × 10 to 10. Read More

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November 2020

Abdominal visceral and subcutaneous adipose tissue and associations with cardiometabolic risk in Inuit, Africans and Europeans: a cross-sectional study.

BMJ Open 2020 09 14;10(9):e038071. Epub 2020 Sep 14.

Clinical Epidemiology, Steno Diabetes Center Copenhagen, Gentofte, Denmark.

Objectives: Abdominal fat has been identified as a risk marker of cardiometabolic disease independent of overall adiposity. However, it is not clear whether there are ethnic disparities in this risk. We investigated the associations of visceral adipose tissue (VAT) and abdominal subcutaneous adipose tissue (SAT) with cardiometabolic risk factors in three ethnic diverse populations of Inuit, Africans and Europeans. Read More

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September 2020

Reasons Why Older Adults Engage in Physical Exercise. Comparative Study Eastern Europe Versus Southern Europe.

J Aging Phys Act 2020 Aug 12;29(1):43-50. Epub 2020 Aug 12.

Introduction: Research on variables that encourage older adults to exercise is limited. This study was carried out to identify the participation motives of older Europeans involved in regular exercise.

Methods: The 418 (170 men, 248 women) who participated in the survey are participants of the Erasmus Plus European Project In Common Sports. Read More

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Second-to-fourth digit ratio and facial shape in Buryats of Southern Siberia.

Early Hum Dev 2020 10 22;149:105138. Epub 2020 Jul 22.

Institute of Ethnology and Anthropology, Russian Academy of Sciences, Leninskiy pr-t 32a, Moscow 119334, Russia; National Research University Higher School of Economics, Myasnitskaya str. 20, Moscow 101000, Russia.

Background: The 2nd-to-4th digit ratio (2D:4D) is a putative predictor of a prenatal exposure to sex hormones. 2D:4D is sexually dimorphic (males < females). Studies, linking digit ratio and full facial shapes among Europeans, show that a low 2D:4D is associated with a set of male-specific facial features. Read More

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October 2020

Neighborhood walkability and pre-diabetes incidence in a multiethnic population.

BMJ Open Diabetes Res Care 2020 06;8(1)

MAP-Centre for Urban Health Solutions, St Michael's Hospital, Toronto, Ontario, Canada.

Introduction: We examined whether adults living in highly walkable areas are less likely to develop pre-diabetes and if so, whether this association is consistent according to immigration status and ethnicity.

Research Design And Methods: Population-level health, immigration, and administrative databases were used to identify adults aged 20-64 (n=1 128 181) who had normoglycemia between January 2011 and December 2011 and lived in one of 15 cities in Southern Ontario, Canada. Individuals were assigned to one of ten deciles (D) of neighborhood walkability (from lowest (D1) to highest (D10)) and followed until December 2013 for the development of pre-diabetes. Read More

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Evidence of Polygenic Adaptation in Sardinia at Height-Associated Loci Ascertained from the Biobank Japan.

Am J Hum Genet 2020 07 12;107(1):60-71. Epub 2020 Jun 12.

Center for Genetic Epidemiology, Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA; Quantitative and Computational Biology Section, Department of Biological Sciences, University of Southern California, Los Angeles, CA 90089, USA. Electronic address:

Adult height is one of the earliest putative examples of polygenic adaptation in humans. However, this conclusion was recently challenged because residual uncorrected stratification from large-scale consortium studies was considered responsible for the previously noted genetic difference. It thus remains an open question whether height loci exhibit signals of polygenic adaptation in any human population. Read More

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Re: .Letter to the Editor of Public Health in response to 'Religiousness and depressive symptoms in Europeans: findings from the Survey of Health, Ageing, and Retirement in Europe'

Public Health 2020 08 9;185:37-38. Epub 2020 Jun 9.

OPEN - Odense Patient Data Explorative Network, Odense University Hospital, 5000 Odense, Denmark; Department of Clinical Research, University of Southern Denmark, 5000 Odense, Denmark.

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Localizing Components of Shared Transethnic Genetic Architecture of Complex Traits from GWAS Summary Data.

Am J Hum Genet 2020 06 21;106(6):805-817. Epub 2020 May 21.

Bioinformatics Interdepartmental Program, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Computational Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.

Despite strong transethnic genetic correlations reported in the literature for many complex traits, the non-transferability of polygenic risk scores across populations suggests the presence of population-specific components of genetic architecture. We propose an approach that models GWAS summary data for one trait in two populations to estimate genome-wide proportions of population-specific/shared causal SNPs. In simulations across various genetic architectures, we show that our approach yields approximately unbiased estimates with in-sample LD and slight upward-bias with out-of-sample LD. Read More

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Genomic history of the Italian population recapitulates key evolutionary dynamics of both Continental and Southern Europeans.

BMC Biol 2020 05 22;18(1):51. Epub 2020 May 22.

Interdepartmental Centre Alma Mater Research Institute on Global Challenges and Climate Change, University of Bologna, Bologna, Italy.

Background: The cline of human genetic diversity observable across Europe is recapitulated at a micro-geographic scale by variation within the Italian population. Besides resulting from extensive gene flow, this might be ascribable also to local adaptations to diverse ecological contexts evolved by people who anciently spread along the Italian Peninsula. Dissecting the evolutionary history of the ancestors of present-day Italians may thus improve the understanding of demographic and biological processes that contributed to shape the gene pool of European populations. Read More

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Estimating narrow-sense heritability using family data from admixed populations.

Heredity (Edinb) 2020 Jun 9;124(6):751-762. Epub 2020 Apr 9.

Department of Biology, Section for Computational and RNA Biology, University of Copenhagen, 2200, Copenhagen, Denmark.

Estimating total narrow-sense heritability in admixed populations remains an open question. In this work, we used extensive simulations to evaluate existing linear mixed-model frameworks for estimating total narrow-sense heritability in two population-based cohorts from Greenland, and compared the results with data from unadmixed individuals from Denmark. When our analysis focused on Greenlandic sib pairs, and under the assumption that shared environment among siblings has a negligible effect, the model with two relationship matrices, one capturing identity by descent and one capturing identity by state, returned heritability estimates close to the true simulated value, while using each of the two matrices alone led to downward biases. Read More

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Minority-centric meta-analyses of blood lipid levels identify novel loci in the Population Architecture using Genomics and Epidemiology (PAGE) study.

PLoS Genet 2020 03 30;16(3):e1008684. Epub 2020 Mar 30.

Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, United States of America.

Lipid levels are important markers for the development of cardio-metabolic diseases. Although hundreds of associated loci have been identified through genetic association studies, the contribution of genetic factors to variation in lipids is not fully understood, particularly in U.S. Read More

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PORTABILITY OF GWAS RESULTS BETWEEN ETHNIC POPULATIONS: GENETIC MARKERS FOR POLYCYSTIC OVARY SYNDROME (PCOS) IN MEDITERRANEAN AREA.

Acta Endocrinol (Buchar) 2019 Jul-Sep;15(3):364-371

University of Montpellier - Molecular Endocrinology - IURC Montpellier, Paris, France.

Genome Wide Association Studies (GWAS) are excellent opportunities to define culprit genes in complex disorders such as the polycystic ovary syndrome (PCOS). PCOS is a prevalent disorder characterized by anovulation, hyperandrogenism and polycystic ovaries, which benefitted from several GWASs in Asians and Europeans revealing more than 20 potential culprit genes near associated single nucleotide variations (SNV). Translation of these findings into the clinical practice raises difficulties since positive hits are surrogate SNVs linked with causative mutations by linkage disequilibrium (LD). Read More

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February 2020

A Transcriptome-Wide Association Study Identifies Novel Candidate Susceptibility Genes for Pancreatic Cancer.

J Natl Cancer Inst 2020 10;112(10):1003-1012

Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.

Background: Although 20 pancreatic cancer susceptibility loci have been identified through genome-wide association studies in individuals of European ancestry, much of its heritability remains unexplained and the genes responsible largely unknown.

Methods: To discover novel pancreatic cancer risk loci and possible causal genes, we performed a pancreatic cancer transcriptome-wide association study in Europeans using three approaches: FUSION, MetaXcan, and Summary-MulTiXcan. We integrated genome-wide association studies summary statistics from 9040 pancreatic cancer cases and 12 496 controls, with gene expression prediction models built using transcriptome data from histologically normal pancreatic tissue samples (NCI Laboratory of Translational Genomics [n = 95] and Genotype-Tissue Expression v7 [n = 174] datasets) and data from 48 different tissues (Genotype-Tissue Expression v7, n = 74-421 samples). Read More

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October 2020

Radiocarbon, Bayesian chronological modeling and early European metal circulation in the sixteenth-century AD Mohawk River Valley, USA.

PLoS One 2019 16;14(12):e0226334. Epub 2019 Dec 16.

Research and Collections Division, New York State Museum, Albany, NY, United States of America.

European metal artifacts in assemblages from sites predating the physical presence of Europeans in Northern Iroquoia in present-day New York, USA and southern Ontario, Canada have been used as chronological markers for the mid-sixteenth century AD. In the Mohawk River Valley of New York, European metal artifacts at sites pre-dating the physical presence of Europeans have been used by archaeologists as a terminus post quem (TPQ) of 1525 to 1550 in regional chronologies. This has been done under the assumption that these metals did not begin to circulate until after sustained European presence on the northern Atlantic coast beginning in 1517. Read More

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Evaluation of Cord Blood Total Nucleated and CD34 Cell Content, Cell Dose, and 8-Allele HLA Match by Patient Ancestry.

Biol Blood Marrow Transplant 2020 04 19;26(4):734-744. Epub 2019 Nov 19.

Adult Bone Marrow Transplantation Service, Department of Medicine Memorial Sloan Kettering Cancer Center, New York, New York; Weill Cornell Medical College, New York, New York.

How cord blood (CB) CD34 cell content and dose and 8-allele HLA match vary by patient ancestry is unknown. We analyzed cell content, dose, and high-resolution HLA-match of units selected for CB transplantation (CBT) by recipient ancestry. Of 544 units (286 infused, 258 next-best backups) chosen for 144 racially diverse adult patients (median weight, 81 kg), the median total nucleated cell (TNC) and CD34cell contents were higher for Europeans than for non-Europeans: 216 × 10versus 197 × 10 (P = . Read More

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