Results 261 to 270 of about 407,509 (363)

Controversies surrounding the effects of beta S-haplotype and alpha- thalassemia-2 on the clinical severity of sickle cell anemia [letter] [PDF]

, 1994
LS Chan, DR Powars
openalex   +1 more source

A century of theories of balancing selection

Biological Reviews, EarlyView.
ABSTRACT Traits that affect organismal fitness are often highly genetically variable. This genetic variation is vital for populations to adapt to their environments, but it is also surprising given that nature – after all – ‘selects’ the best genotypes at the expense of those that fall short.
Filip Ruzicka, Martyna K. Zwoinska, Debora Goedert, Hanna Kokko, Xiang‐Yi Li Richter, Iain R. Moodie, Sofie Nilén, Colin Olito, Erik I. Svensson, Peter Czuppon, Tim Connallon   +10 more
wiley   +1 more source

Genotype imputation from low-coverage WGS using haplotype reference panels in cultivated strawberry. [PDF]

BMC Genomics
Koorevaar T, Willemsen JH, Visser RGF, Arens P, Maliepaard C.   +4 more
europepmc   +1 more source

Whole Genome Assembly of the Atlantic Bluefin Tuna Thunnus thynnus, with Phased Haplotypes [PDF]

Barbara A. Block, Shaili Johri, Andre Machado, Adam Ciezerak, Filipe Castro, Paul Peluso, Greg Concepcion, Tal Eli-Zaquin, Laia Juliana Del Rocio, Barbara A. Block, Gregory T. Concepcion, Barbara A. Block, Shaili Johri, Andre Machado, Adam Ciezerak, Filipe Castro, Laia Juliana Del Rocio, Tal Eli-Zaquin, Paul Peluso, Gregory T. Concepcion   +19 more
openalex   +1 more source

WhatsHap: Weighted Haplotype Assembly for Future-Generation Sequencing Reads

J. Comput. Biol., 2015
M. Patterson, T. Marschall, N. Pisanti, L. Iersel, L. Stougie, G. Klau, A. Schönhuth   +6 more
semanticscholar   +1 more source

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies

Clinical Genetics, EarlyView.
Missense variants in TMEM17 disrupt its localization and function at the ciliary transition zone, leading to a wide range of ciliopathy phenotypes, from OFD6 and Joubert syndromes to Meckel syndrome. ABSTRACT Ciliopathies are rare genetic disorders characterized by significant genetic and phenotypic variability.
Lucile Boutaud, Chunmei Li, Candice Moncler, Laure Verlin, Meriem Garfa‐Traoré, Nicolas Bourgon, Dhruvin Akbari, Jeanne Porée, Valentina Serpieri, Marine Panza, Lynda Haddad, Patrick Nitschké, Jacqueline Aziza, Cristina Matt, Enza Maria Valente, Patricia Gargallo, Charlotte Dubucs, Tania Attié‐Bitach, Michel R. Leroux, Sophie Thomas   +19 more
wiley   +1 more source

Phylogeography and structure of Hyalomma marginatum populations in the context of Corsica, France. [PDF]

Parasitol Res
Gasparine M, Kiwan P, Masse S, Falchi A.
europepmc   +1 more source

Haplotype analysis and linkage disequilibrium for DGAT1 [PDF]

, 2010
Brockmann, Gudrun A., De Koning, Dirk-Jan, Rahmatalla, Siham, Strucken, Eva M.   +3 more
core  

Fetal Fraction Signatures: A Quality Control Tool to Detect Potentially Confounding Situations in NonInvasive Prenatal Diagnosis of Monogenic Conditions

Clinical Genetics, EarlyView.
Noninvasive prenatal diagnosis for monogenic diseases (NIPD‐M) to detect inherited mutations is performed in parallel with fetal fraction signatures, to detect various anomalies that may compromise diagnosis. An extra regression analysis may be necessary to resolve mosaic situations. ABSTRACT Noninvasive prenatal diagnosis relies on the analysis of the
Jean‐Louis Blouin, Claudine Rieubland, Thierry Nouspikel   +2 more
wiley   +1 more source

Secure phasing of private genomes in a trusted execution environment with TX-Phase. [PDF]

Genome Res
Dokmai N, Zhu K, Sahinalp SC, Cho H.
europepmc   +1 more source