High-throughput sequencing of fetal DNA is a promising and increasingly common method for the discovery of all (or all coding) genetic variants in the fetus, either as part of prenatal screening or diagnosis, or
which caused unknown variant calls. Manual inspection revealed that these were probably sequencing errors resulting in mis-assembled regions (probably due to the known error profile of Ion Torrent sequencers)57. To resolve this, the raw reads from the IonTorrent platform were assembled using the SA...
A variant function is created as customer-specific coding, which is called up from the dependency by the keywords FUNCTION and PFUNCTION. The characteristics and characteristic values are then transferred in a list containing pairs of parameter names and associated parameter values. Variant functions ...
The idiosyncratic inheritance pattern associated with thesex chromosomesmeans that genes on theY chromosomecan only be expressed in males. In man, the Y chromosome is just 60Mb in size, and is thought to house fewer than 100 protein-coding genes (together with a large number ofpseudogenes, and...
The Ensembl Variant Effect Predictor is a powerful toolset for the analysis, annotation, and prioritization of genomic variants in coding and non-coding regions. It provides access to an extensive collection of genomic annotation, with a variety of inter
# -*- coding: utf-8 -*- """ Created on Sat Jan 21 14:37:54 2017 @author: ZQ """ import numpy as np import matplotlib.pyplot as plt from sklearn.ensemble import BaggingRegressor from sklearn.tree import DecisionTreeRegressor
rs86770455919:110630-110630 TT frameshift_variant HIGH OR4F17 ENSG00000176695 Transcript ENST00000618231.3 protein_coding2/2 - - -60155T/TX acT/acTT rs867704559 -1- HGNC HGNC:15381 - - P1 - - - - - - - - - - - - rs86770455919:110630-110630 TT downstream_gene_variant MODIFIER OR4G1P...
The rationale of coding multi-allelic sites as multiple lines of bi-allelic sites is as follows: (1) the majority of existing analysis software does not support multi-allelic sites coded in one line; (2) imputation outputs (e.g. Michigan Imputation Server) multi-allelic sites in multiple lin...
Tennessen JA, Bigham AW, O’Connor TD, Fu W, Kenny EE, Gravel S, et al.Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science (New York, N.Y.) 2012; 337(6090):64–9. doi:10.1126/science.1219240. ...
Normally, alteration of the amino acid sequence of EPO will be made by altering the coding sequence of nucleic acid encoding EPO. One or more nucleotides may be altered to alter one or more codons and thus the encoded amino acid(s). As mentioned elsewhere herein, and will be apparent to ...