World Record Set For Fastest Genome Sequencing | Health
Key Takeaways Researchers have set a new world record for fastest whole human genome sequencing The team completed…
SPAmix: a scalable, accurate, and universal analysis framework for large-scale genetic association studies in admixed populations | Genome Biology
Model residuals of linear regression and logistic regression Linear regression and logistic regression are regular models to fit…
SAGPEK: fast and flexible approach to identify genotypes of Sanger sequencing data | BMC Bioinformatics
Software architecture SAGPEK mainly processes Sanger sequencing results of two kinds of samples: diploids such as humans and…
The LMSz method – an automatable scalable approach to constructing gene-specific growth charts in rare disorders
We have developed a method for producing gene-specific z-score centile charts and growth charts based on small datasets…
Systema: a framework for evaluating genetic perturbation response prediction beyond systematic variation
Nonparametric baselines We design two nonparametric baselines that we refer to as perturbed mean and matching mean. Perturbed…
A novel gene expression stability metric to unveil homeostasis and regulation | Genome Biology
K-proportion and gene homeostasis Z-Index identify regulatory genes As cells of the same type and in the same…
‘Google for DNA’ brings order to biology’s big data
MetaGraph indexes and vast archives of DNA, RNA, and protein sequences. Scientists can search the archives and trace…
Dissecting the impact of transcription factor dose on cell reprogramming heterogeneity using scTF-seq
Constructing the scTF-seq library and single-cell atlas To establish scTF-seq, we built a dox-inducible lentiviral open reading frame…
Advances in haplotype phasing and genotype imputation
Voight, B. F., Kudaravalli, S., Wen, X. & Pritchard, J. K. A map of recent positive selection in…
Further phenotypical delineation of DLG3-related neurodevelopmental disorders
Elias GM, Elias LAB, Apostolides PF, Kriegstein AR, Nicoll RA. Differential trafficking of AMPA and NMDA receptors by…
MSnLib: efficient generation of open multi-stage fragmentation mass spectral libraries
Materials All solvents used were of LC–MS grade. Methanol, acetonitrile, water and formic acid were obtained from Thermo…
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+)
Capone VP, Morello W, Taroni F, Montini G. Genetics of congenital anomalies of the kidney and urinary tract:…