Results 101 to 110 of about 4,000 (206)

Computation of multilocus prior probability of autozygosity for complex inbred pedigrees [PDF]

Genetic Epidemiology, 1997
Homozygosity mapping is a very powerful method for mapping rare recessive diseases in humans. In many applications, it is often desirable to compute prior (or unconditional) multilocus probability of autozygosity for inbred pedigrees. This paper proposes a simple yet powerful method for computing the prior multilocus autozygosity probability for ...
openaire   +2 more sources

Genome-wide scan for Runs of Homozygosity in Valle del Belice sheep [PDF]

, 2017
The current availability of very large numbers of single nucleotide polymorphisms (SNPs) throughout the genome makes these markers particularly suitable for the detection of genomic regions where a reduction in heterozygosity occurred and offers new ...
Di Gerlando, R., Mastrangelo, S., Portolano, B., Sardina, M., Sutera, A., Tolone, M.   +5 more
core  

Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family [PDF]

, 2016
Intellectual disability (ID) is the term used to describe a diverse group of neurological conditions with congenital or juvenile onset, characterized by an IQ score of less than 70 and difficulties associated with limitations in cognitive function and ...
Bergerheim, El Chehadeh, Garshasbi, Garshasbi, Hamdan, Kaufman, Kelleher, Khan, Loddo, Maulik, Miller, Mohorko, Molinari, Najmabadi, Pribill, Rajab, Rajab, Salvador-Carulla, Sun, Vaňhara, Zhou   +20 more
core   +1 more source

Genomic Monitoring of a Reintroduced Butterfly Uncovers Contrasting Founder Lineage Survival

Evolutionary Applications, Volume 18, Issue 2, February 2025.
ABSTRACT Genetic factors can have a major influence on both short‐ and long‐term success of reintroductions. Genomic monitoring can give a range of insights into the early life of a reintroduced population and ultimately can help to avoid wasting limited conservation resources.
Georgina Halford, Dirk Maes, Carl J. Yung, Ivy Whiteford, Nigel A. D. Bourn, Caroline R. Bulman, Philippe Goffart, Jenny A. Hodgson, Ilik J. Saccheri   +8 more
wiley   +1 more source

Inbreeding and runs of homozygosity before and after genomic selection in North American Holstein cattle

BMC Genomics, 2018
Background While autozygosity as a consequence of selection is well understood, there is limited information on the ability of different methods to measure true inbreeding.
Mehrnush Forutan, Saeid Ansari Mahyari, Christine Baes, Nina Melzer, Flavio Schramm Schenkel, Mehdi Sargolzaei   +5 more
doaj   +1 more source

The inference of gray whale (Eschrichtius robustus) historical population attributes from whole-genome sequences [PDF]

, 2018
Commercial whaling caused extensive demographic declines in many great whale species, including gray whales that were extirpated from the Atlantic Ocean and dramatically reduced in the Pacific Ocean. The Eastern Pacific gray whale has recovered since the
A Hu, A McKenna, AD Foote, AE Moura, AL Bradford, AM Bolger, AM Meynert, Anna Brüniche-Olsen, AP Martin, B Shapiro, BJ McMahon, BR Mate, CD Phillips, CD Phillips, Celine Godard-Codding, DA Darby, DJ Rugh, DP Howrigan, DR Bentley, DW Weller, Eschrichtius robustus (western subpopulation), EY Durand, FG Marx, GA Auwera, H Hu, H Li, H Li, H Li, H Whitehead, H-S Yim, H-S Yim, J Prado-Martinez, J Ready, J Roman, J Schipper, J Sumich, J. Andrew DeWoody, JA DeWoody, JA Jackson, JBC Jackson, JL Blois, John W. Bickham, JW Durban, K Kaschner, L Bromham, L Chao, M Bosse, M De Bruyn, M Fujiwara, M Kimura, M Kirin, M Nikaido, M Plummer, MA DePristo, N Patterson, ND Pyenson, NJ Abram, NJR Fagundes, R DWW, R Frankham, R McQuillan, R Nielsen, RD Norris, RE Green, RG LeDuc, Rick Westerman, RL Lewison, S Purcell, S Schiffels, S Zhao, SC Doney, SE Alter, SE Alter, SE Alter, SE Moore, SE Moore, SL Swartz, SS Heppell, T Kishida, Team RDC, TS Korneliussen, U Arnason, Vladimir V. Vertyankin, WC Lee, X Yi, Zuzanna Kazmierczyk, Ü Väli   +86 more
core   +1 more source

Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis

Molecular Genetics &Genomic Medicine, Volume 13, Issue 1, January 2025.
Sengers syndrome, characterized by hypertrophic cardiomyopathy, congenital cataracts, skeletal myopathy, exercise intolerance, and lactic acidosis, is caused by mutations in the AGK gene. This study reports the successful diagnosis of Sengers syndrome using comprehensive genomic analysis, identifying both a known pathogenic AGK variant and a previously
Kohta Nakamura, Yukiko Yatsuka, Sachie Naito, Akira Hasegawa, Takeya Kasukawa, Atsushi Kondo, Yoshihito Kishita, Yohei Sugiyama, Takanori Onuki, Tomohiro Ebihara, Tomoko Tsuruoka, Takuya Fushimi, Akira Ohtake, Kei Murayama, Atsuko Imai‐Okazaki, Yasushi Okazaki   +15 more
wiley   +1 more source

Whole genome sequencing for copy number variant detection to improve diagnosis and management of rare diseases

Developmental Medicine &Child Neurology, Volume 67, Issue 1, Page 126-131, January 2025.
This case series demonstrates the utility of whole genome sequencing in identifying copy number variants missed by conventional methods of testing. Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16008 Abstract First‐line genetic investigations for rare neurological and developmental conditions have limitations in their ability
Pamela Bowman, Hannah Grimes, Anthony R. Dallosso, Ian Berry, Stephen Mullin, Julia Rankin, Karen J. Low   +6 more
wiley   +1 more source

Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation.

PLoS Genetics, 2013
The use of autozygosity as a mapping tool in the search for autosomal recessive disease genes is well established. We hypothesized that autozygosity not only unmasks the recessiveness of disease causing variants, but can also reveal natural knockouts of ...
Ahmed B Alsalem, Anason S Halees, Shamsa Anazi, Shomoukh Alshamekh, Fowzan S Alkuraya   +4 more
doaj   +1 more source

Application of genome-wide single nucleotide polymorphism typing: simple association and beyond. [PDF]

PLoS Genetics, 2006
The International HapMap Project and the arrival of technologies that type more than 100,000 SNPs in a single experiment have made genome-wide single nucleotide polymorphism (GW-SNP) assay a realistic endeavor.
J Raphael Gibbs, Andrew Singleton
doaj   +1 more source