Results 191 to 200 of about 4,000 (206)

Near-complete Middle Eastern genomes refine autozygosity and enhance disease-causing and population-specific variant discovery

Nature Genetics
Advances in long-read sequencing have enabled routine complete assembly of human genomes, but much remains to be done to represent broader populations and show impact on disease-gene discovery.
M. Ghorbani, Shabir Moosa, Zenab Siddig, Radi Farhad, Haroon Naeem, William T. Harvey, F. K. Mastrorosa, Katherine M. Munson, Rozaimi Mohamad Razali, E. Aliyev, I. Diboun, Rawan Abouelhassan, Melissa Tauro, Sondoss Hassan, Rebecca Mathew, Muna Al Hashmi, L. Mathew, Kun Wang, Abdul Rahman Salhab, F. Vempalli, Ahmed El Khouly, Said I. Wadha Radja Hamdi Dima Tasnim Heba Maryem Rania Ismail Al-Muftah Badji Mbarek Darwish Fadl Yasin E, Said I. Wadha Radja Hamdi Dima Tasnim Heba Maryem Rania Ismail Al-Muftah Badji Mbarek Darwish Fadl Yasin E, Said I. Ismail, W. Al-Muftah, Radja Badji, H. Mbarek, D. Darwish, Tasnim Fadl, Heba Yasin, Maryem Ennaifar, Rania Abdellatif, Fatima Alkuwari, Muhammad Alvi, Y. Al-Sarraj, Chadi Saad, A. Althani, Eleni Fatima Eiman Nahla Fethnou Qafoud Alkhayat Afifi, Eleni Fethnou, Fatima Qafoud, Eiman Alkhayat, N. Afifi, Wei Stephan Liu Lorenz, Wei Liu, Stephan Lorenz, Najeeb Hakeem Ramzi Syed Almabrazi Temanni, Najeeb Syed, Hakeem G. Almabrazi, Ramzi Temanni, Tariq Abu Mohammedhusen Mehshad Tariq Abu Tushar Shafeeq Saqri Khatib Hamza Zaid Pathare Poolat Al-Ali, Tariq Abu Saqri, M. Khatib, Mehshad Hamza, Tariq Abu Zaid, Tushar Pathare, Shafeeq Poolat, Rashid Al-Ali, Omar Souhaila Mashael Ramin Lotfi Xavier Khalid Jithesh Albagha Al-Khodor Alshafai Badii Chouchane Estivil, Omar M. E. Albagha, Souhaila Al‐Khodor, Mashael Alshafai, R. Badii, Lotfi Chouchane, Xavier Estivill, Khalid A. Fakhro, Jithesh V. Puthen, K. Suhre, Z. Tatari, Iman Alazwani, S. Tomei, Khalid A. Fakhro, Alia Satti, Ruba Benini, A. Rhie, E. Eichler, Younes Mokrab   +75 more
semanticscholar   +1 more source

Autozygosity mapping in consanguineous Pakistani families identifies nine non-overlapping novel linkage intervals for autosomal recessive non-syndromic mental retardation (AR-NSMR); shows genetic heterogeneity for AR-NSMR.

JPMA. The Journal of the Pakistan Medical Association, 2021
Psychological disturbance (PD) or cerebral dysfunction (CD) covers several clinical areas, and has defining features of mental retardation. Recently, we conducted a study to investigate heritable heterogeneity in Pakistani consanguineous couples with ...
S. Rehman, R. M. Khan, R. Khan, I. Hussain, Noor Muhammad, M. Arif   +5 more
semanticscholar   +1 more source

Estimates of autozygosity derived from runs of homozygosity: empirical evidence from selected cattle populations

Journal of Animal Breeding and Genetics, 2012
SummaryUsing genome‐wide SNP data, we calculated genomic inbreeding coefficients (FROH > 1 Mb, FROH > 2 Mb, FROH > 8 Mb and FROH > 16 Mb) derived from runs of homozygosity (ROH) of different lengths (>1, >2, >8 and > 16 Mb) as well as from levels of homozygosity (FHOM).
Ferenčaković, M., Hamzic, Edin, Gredler, B., Solberg, T. R., Klemetsdal, G., Curik, I., Sölkner, J.   +6 more
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Associations of autozygosity with economic important traits in a cross of Eurasian pigs.

Journal of genetics and genomics = Yi chuan xue bao, 2022
Tao Lin, Li-gang Wang, A. Adeola, Longchao Zhang, Lianqinfg Li, Qing-Long Li, Dao-Ji Cen, Chen Yan, Zhan-Shan Ma, Li-Xian Wang, Haibing Xie, Ya-ping Zhang   +11 more
semanticscholar   +1 more source

Autozygosity

2022
openaire   +1 more source

A Genome-Wide Investigation of Autozygosity and Breast Cancer Risk

2011
Abstract : Longs segments ( 1 megabase) of homozygous DNA are common in the genomes of outbred human populations. Several lines of research indicate that elevated genome-wide homozygosity and runs of homozygosity (RoH) at specific loci may increase breast cancer risk. In this project, we determine if genome-wide RoH content and individual RoHs are more
openaire   +1 more source

Genomic metrics of individual autozygosity, applied to a cattle population

2010
High throughput genotyping technology provides information about a large number of genetic markers roughly evenly spread across the genome. Levels of individual homozygosity and homozygous segments (runs of homozygosity) provide information about levels of inbreeding of animals.
Čurik, Ino, Ferenčaković, Maja
openaire   +2 more sources

Whole Exome Sequencing, homozygosity, autozygosity

Journal of Biotechnology, 2014
openaire   +1 more source

. Autosomal Recessive Conditions and Autozygosity Mapping

2012
Colin A. Johnson, Eamonn R. Maher
openaire   +1 more source

Genomic Diversity and Autozygosity-Based Signatures of Selection in Kangal Akkaraman Sheep via Genotyping-by-Sequencing

Kafkas Universitesi Veteriner Fakultesi Dergisi
Eymen Demir
semanticscholar   +1 more source