Results 1 to 10 of about 10,288,978 (312)

Behinderung – Genetik – Vorsorge. Sterilisationspraxis und humangenetische Beratung in der Bundesrepublik

Zeithistorische Forschungen, 2013
To this day, there is no comprehensive account of the history of genetic counseling in the FRG. This is surprising, as studying the connections between counseling practice and disability as well as concepts and critique of Human Genetics allows for an ...
Britta-Marie Schenk
doaj   +1 more source

HUMAN BIOCHEMICAL GENETICS

British Medical Bulletin, 1948
RESP ...
openaire   +2 more sources

Genome sequencing as a generic diagnostic strategy for rare disease

Genome Medicine
Background To diagnose the full spectrum of hereditary and congenital diseases, genetic laboratories use many different workflows, ranging from karyotyping to exome sequencing.
Gaby Schobers, Ronny Derks, Amber den Ouden, Hilde Swinkels, Jeroen van Reeuwijk, Ermanno Bosgoed, Dorien Lugtenberg, Su Ming Sun, Jordi Corominas Galbany, Marjan Weiss, Marinus J. Blok, Richelle A. C. M. Olde Keizer, Tom Hofste, Debby Hellebrekers, Nicole de Leeuw, Alexander Stegmann, Erik-Jan Kamsteeg, Aimee D. C. Paulussen, Marjolijn J. L. Ligtenberg, Xiangqun Zheng Bradley, John Peden, Alejandra Gutierrez, Adam Pullen, Tom Payne, Christian Gilissen, Arthur van den Wijngaard, Han G. Brunner, Marcel Nelen, Helger G. Yntema, Lisenka E. L. M. Vissers   +29 more
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Thousands of Qatari genomes inform human migration history and improve imputation of Arab haplotypes

Nature Communications, 2021
Arab populations are relatively understudied, especially their genetic architecture and historical relationship with early founders of the ancient Near East.
Rozaimi Mohamad Razali, Juan Rodriguez-Flores, Mohammadmersad Ghorbani, Haroon Naeem, Waleed Aamer, Elbay Aliyev, Ali Jubran, Qatar Genome Program Research Consortium, Andrew G. Clark, Khalid A. Fakhro, Younes Mokrab   +10 more
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Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia

iScience, 2022
Summary: Homozygous familial hypercholesterolemia (HoFH) is an extremely rare metabolism disorder usually caused by low-density lipoprotein receptor (LDLR) mutations.
Zhiyong Du, Fan Li, Linyi Li, Yu Wang, Jianping Li, Ya Yang, Long Jiang, Luya Wang, Yanwen Qin   +8 more
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Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles

eLife, 2016
Premature fusion of the cranial sutures (craniosynostosis), affecting 1 in 2000 newborns, is treated surgically in infancy to prevent adverse neurologic outcomes.
Andrew T Timberlake, Jungmin Choi, Samir Zaidi, Qiongshi Lu, Carol Nelson-Williams, Eric D Brooks, Kaya Bilguvar, Irina Tikhonova, Shrikant Mane, Jenny F Yang, Rajendra Sawh-Martinez, Sarah Persing, Elizabeth G Zellner, Erin Loring, Carolyn Chuang, Amy Galm, Peter W Hashim, Derek M Steinbacher, Michael L DiLuna, Charles C Duncan, Kevin A Pelphrey, Hongyu Zhao, John A Persing, Richard P Lifton   +23 more
doaj   +1 more source

Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics

European Journal of Human Genetics, 2018
Technological advances have increased the availability of genomic data in research and the clinic. If, over time, interpretation of the significance of the data changes, or new information becomes available, the question arises as to whether recontacting
D. Carrieri, H. Howard, C. Benjamin, A. Clarke, Sandi Dheensa, Shane Doheny, N. Hawkins, Tanya F. Halbersma-Konings, Leigh Jackson, H. Kayserili, S. Kelly, A. Lucassen, Álvaro Mendes, E. Rial‐Sebbag, V. Stefánsdóttir, P. Turnpenny, C. V. van El, I. V. van Langen, M. Cornel, F. Forzano   +19 more
semanticscholar   +1 more source

Conflation of Short Identity-by-Descent Segments Bias Their Inferred Length Distribution

G3: Genes, Genomes, Genetics, 2016
Identity-by-descent (IBD) is a fundamental concept in genetics with many applications. In a common definition, two haplotypes are said to share an IBD segment if that segment is inherited from a recent shared common ancestor without intervening ...
Charleston W. K. Chiang, Peter Ralph, John Novembre   +2 more
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Burden of Mendelian disorders in a large Middle Eastern biobank

Genome Medicine
Background Genome sequencing of large biobanks from under-represented ancestries provides a valuable resource for the interrogation of Mendelian disease burden at world population level, complementing small-scale familial studies.
Waleed Aamer, Aljazi Al-Maraghi, Najeeb Syed, Geethanjali Devadoss Gandhi, Elbay Aliyev, Alya A. Al-Kurbi, Omayma Al-Saei, Muhammad Kohailan, Navaneethakrishnan Krishnamoorthy, Sasirekha Palaniswamy, Khulod Al-Malki, Saleha Abbasi, Nourhen Agrebi, Fatemeh Abbaszadeh, Ammira S. Al-Shabeeb Akil, Ramin Badii, Tawfeg Ben-Omran, Bernice Lo, The Qatar Genome Program Research Consortium, Younes Mokrab, Khalid A. Fakhro   +20 more
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Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects

Nature Communications, 2018
Hundreds of thousands of human whole genome sequencing (WGS) datasets will be generated over the next few years. These data are more valuable in aggregate: joint analysis of genomes from many sources increases sample size and statistical power. A central
Allison A. Regier, Y. Farjoun, D. Larson, O. Krasheninina, H. Kang, D. Howrigan, Bo-Juen Chen, Manisha Kher, E. Banks, Darren C. Ames, A. English, Heng Li, Jinchuan Xing, Yeting Zhang, T. Matise, G. Abecasis, W. Salerno, M. Zody, B. Neale, Ira M. Hall   +19 more
semanticscholar   +1 more source