Results 231 to 240 of about 42,079 (286)

RanBALL: An Ensemble Machine Learning Framework for Accurate Subtype Identification of Pediatric B‐Cell Acute Lymphoblastic Leukemia

Advanced Intelligent Systems, EarlyView.
Here, we present RanBALL, an ensemble random projection‐based model for accurate and cost‐effective identification of B‐cell acute lymphoblastic leukemia subtypes is presented. By preserving patient‐to‐patient distance after dimension reduction by random projection and ensemble learning, RanBALL can facilitate the discovery of B‐ALL subtype‐specific ...
Lusheng Li, Hanyu Xiao, Xinchao Wu, Zhenya Tang, Joseph D. Khoury, Jieqiong Wang, Shibiao Wan   +6 more
wiley   +1 more source

Optical genome mapping of a complex structural rearrangement family line on chromosome 18. [PDF]

Hereditas
Cai L, Jiang Y, Zhang N, Chen X.
europepmc   +1 more source

An alpine plant shows no decrease in genetic diversity associated with rapid post‐glacial range expansion

American Journal of Botany, EarlyView.
Abstract Premise: While range expansion is hypothesized to be a mechanism for species persistence under climate change, many eco‐evolutionary models describe demographic and genetic processes during expansion that may increase genetic drift, decrease genetic variation, and ultimately decrease relative fitness at the leading edge.
Mackenzie Urquhart‐Cronish, Colette S. Berg, Dylan Moxley, Olivia J. Rahn, Lila Fishman, Amy L. Angert   +5 more
wiley   +1 more source

HSATII RNA-dependent triplex formation in early human embryogenesis as a potential mechanism for Y chromosome loss in Turner syndrome. [PDF]

Front Mol Biosci
Fularski K.
europepmc   +1 more source

Variation in tolerance to heterospecific pollen from a non‐native congener depends on co‐existence history of maternal and paternal source populations

American Journal of Botany, EarlyView.
Abstract Premise Plants in sympatric populations with congeners may have evolved tolerance to the negative effects of heterospecific pollen (HP) through selection on female or male reproductive traits. If so, then the degree of HP tolerance may vary depending on the co‐existence history of the maternal and paternal plant source populations.
Yusuke Hoshino, Sachiko Horie, Masayuki Maki, Ikumi Dohzono   +3 more
wiley   +1 more source

Clinically Irrelevant Terminal 16q21 Deletion Detected by NIPT Is Attributable to Inherited Fragility at FRA16B

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genome‐wide non‐invasive prenatal testing (NIPT) is a powerful tool for prenatal detection of the common aneuploidies causing Down‐, Edwards‐, and Patau syndrome. Its genome‐wide reach also enables the detection of unbalanced structural chromosomal abnormalities.
Servi J. C. Stevens, Wanwisa van Dijk, Nicole Y. Souren, Merryn V. E. Macville, Guillaume van de Zande, Brigitte H. W. Faas, Bart de Koning, Arthur van den Wijngaard, Sonja de Munnik, Masoud Zamani Esteki   +9 more
wiley   +1 more source

Familial Xq27.1q28 duplication arising from a maternal interarm forward insertion of the X chromosome: a case report. [PDF]

Front Genet
Li X, Peng YM, Luo BW, Luo YD, Qin YR, Feng K, Li DR, Yang ZY, Zhu LL, Pan JJ, Song JJ, Liang J, Liu WW, Deng GS.   +13 more
europepmc   +1 more source

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source

Comparative genomic analysis of Artemisia argyi reveals asymmetric expansion of terpene synthases and conservation of artemisinin biosynthesis. [PDF]

Plant J
Chen X, Liao B, Wu D, Li C, Li Z, Huang Z, Duan L, Shen Q.   +7 more
europepmc   +1 more source