Results 261 to 270 of about 10,219,641 (384)

Computational Techniques for a Comprehensive Understanding of Different Genotype-Phenotype Factors in Biological Systems and Their Applications

, 2018
Abhishek Subramanian, Ram Rup Sarkar
openalex   +1 more source

Analysis of targeted and whole genome sequencing of PacBio HiFi reads for a comprehensive genotyping of gene-proximal and phenotype-associated Variable Number Tandem Repeats. [PDF]

PLoS Comput Biol
Javadzadeh S, Adamson A, Park J, Jo SY, Ding YC, Bakhtiari M, Bansal V, Neuhausen SL, Bafna V.   +8 more
europepmc   +1 more source

Detecting the Difficult: An Intronic NPC1 Variant Hiding in Plain Sight

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT An illustration of the importance of manual data review for identifying rare intronic variants adjacent to homopolymers is presented here. A 14‐year‐old male with Niemann‐Pick Type C disease confirmed biochemically was only found to have a heterozygous pathogenic variant by molecular analysis. A manual review of the Next Generation Sequencing (
Caroline Gully Brown, Matthew Bower, Matthew Schomaker, Jessica Goldstein, Jeanine Jarnes, Chester B. Whitley, Nishitha R. Pillai   +6 more
wiley   +1 more source

Exploration of different quantitative polymerase chain reaction-based genotyping methods to distinguish Apcmin/+ mice from wildtype mice. [PDF]

PLoS One
Sun Y, Zhou T, Ye S, Lau EYT, Zeng Y, Liang JQ.   +5 more
europepmc   +1 more source

Quality of Oilseed Brassica as Influenced by Planting Techniques and Genotypes

International Journal of Current Microbiology and Applied Sciences, 2019
Madan Singh Negi, B.S. Mahapatra, Alankar Singh, Pal lavi, Anil Nath, Chandra Bhushan, Sumit Kumar Chaudhary, Anil D. Shukla   +7 more
openaire   +1 more source

Presenting Clinical Information on Rare Chromosome 6 Disorders via a Parent‐Centered Website: Parental and Professional Views

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The scarcity of clinical information surrounding rare chromosome disorders poses challenges for parents and clinicians. To bridge this gap for chromosome 6 disorders, the Chromosome 6 Project collects detailed genotype and phenotype data, aiming to provide aberration‐specific phenotype information to parents via an interactive website.
Eleana Rraku, Aafke Engwerda, Tyler D. Medina, Morris A. Swertz, Lennart F. Johansson, Conny M. A. van Ravenswaaij‐Arts, Imke Christiaans   +6 more
wiley   +1 more source

Evaluating the performance of the Xpert HPV assay in detecting HPV positive cases in Morocco. [PDF]

Tumour Virus Res
Yerim SA, Khazraji YC, Bekkali R, Bennai M, Bahra N, Chaoui I, Chellat FZ, Gaizi Z, Tachfouti N, Benabdellah A, Belkadi B, Attaleb M, Berraho MA, El Mzibri M.   +13 more
europepmc   +1 more source

Abnormal DNA Methylation Profile Suggests the Extension of the Clinical Spectrum of the SETD2‐Related Disorders to a Syndromic Multiple Tumor Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SETD2 has an essential role in epigenetic regulation. SETD2 pathogenic variants cause neurodevelopmental disorders (SETD2‐NDDs) that most commonly include various degrees of intellectual disability and behavioral disorders, macrocephaly, brain malformations, and generalized overgrowth.
Marie Lucain, Antonio Vitobello, Bekim Sadikovic, Juliette Albuisson, Léa Gaudillat, Martin Chevarin, Julien Maraval, Christel Thauvin‐Robinet, Jennifer Kerkhof, Christophe Philippe, Sophie Nambot, Laurence Faivre   +11 more
wiley   +1 more source

RAD Capture (Rapture): Flexible and Efficient Sequence-Based Genotyping

Genetics, 2015
Omar A. Ali, S. O’Rourke, S. Amish, Mariah H. Meek, G. Luikart, C. Jeffres, Michael R. Miller   +6 more
semanticscholar   +1 more source

Integrating <i>RHD</i> Genotyping for More Accurate Rh(D) Antigen Phenotyping: A Retrospective Study. [PDF]

Medicina (Kaunas)
Barouqa M, Dela Cruz N.
europepmc   +1 more source