GRCh38.p14 is now released!
GRCh38.p14 (GCA_000001405.29/GCF_000001405.40), the latest update to the human reference assembly, has been released! It adds 69 new patch scaffolds, 51 of which are FIX patches that update sequences on the GRCh38 reference chromosomes or alternate loci, while 18 are NOVEL patches, providing new alternate representations for complex genomic regions that are inadequately represented by a single sequence. Two previously released FIX patches were also updated. With this release, the reference assembly contains a total of 250 patch scaffolds (164 FIX, 90 NOVEL).30 of the patches included in this release include genome updates ...
Source: GenomeRef - May 9, 2022 Category: Genetics & Stem Cells Source Type: blogs
GRCh38.p13 has been released
The GRC is pleased to announce that GRCh38.p13 is now available! This release adds 45 new scaffolds: 43 FIX patches and 2 NOVEL patches. The FIX patch scaffolds provide assembly corrections while the NOVEL patch scaffolds deliver new alternate sequence representations. A valuable contribution to this patch release comes in the addition of the Nucleolus Organiser Region (NOR) sequences for the short arms of the acrocentric chromosomes (13, 14, 15, 21, and 22) as provided by Brian McStay ' s group (PMID: 23990606). The NOR additions will be discussed in detail in a separate blog.With access to an ever-increasing pool of...
Source: GenomeRef - March 20, 2019 Category: Genetics & Stem Cells Source Type: blogs
Intracranial Hypotension : MRI
Case Report:27 year old female without any previous co-morbidity and not on any medications was diagnosed with hydatidiform mole. Evacuation was done under spinal anesthesia. The next day following the procedure, she developed headache, which was only present on sitting on standing and was relieved on attaining supine position. After 2 days , she developed worsening of the headache which now became continuous and she also developed right sided focal seizures in upper limb. Initial clinical diagnosis in the background of a hypercoagulable state (hydatiform mole), headache and seizures was cerebral venous thrombosis. H...
Source: Sumer's Radiology Site - April 8, 2018 Category: Radiology Authors: Sumer Sethi Source Type: blogs
USMLE Questions – Characteristic Disease Findings
The United States Medical Licensing Examination (USMLE) is designed to emphasize knowledge of clinical scenarios and clinical pearls, even on Step I. Listed below are some commonly encountered disease findings and characteristics.
Feature
Disease
45, X chromosome
Turner’s syndrome
5-HIAA increased in urine
Carcinoid syndrome
Aganglionic rectum
Hirschsrpung’s disease
Apple-core sign on barium enema
Colon cancer
Arched back (opisthotonos)
Tetanus
Argyll-Robertson pupil
Syphilis
Ash leaf on forehead
Tuberous sclerosis
Auer rods
Acute myelogenous leukemia
Austin Flint murmur
Aortic regurgitation...
Source: Inside Surgery - January 18, 2013 Category: Surgeons Authors: Editor Tags: Surgpedia USMLE diseases findings VMA water hammer pulse Source Type: blogs
Genome Update: Highly variant immune regions retiled as single haplotype paths
Genes encoding for proteins that compose the immune system are constantly evolving in response to selective pressures from pathogens. This rapid host-pathogen co-evolution has led to large families of genes that are highly polymorphic and are often a result of gene duplication and diversification. In GRCh37, the current reference assembly, some chromosome regions encompassing such genes are comprised of components from several different genomic libraries. The lack of a single haplotype and excess allelic variation at such regions hinders haplotype inference using traditional linkage disequilibrium based methodology. In add...
Source: GenomeRef - January 9, 2013 Category: Genetics & Stem Cells Source Type: blogs
Filling in the gaps to better understand human biology
Duplicated segments pose serious problems for the assembly and annotation of the human genome. In the human reference genome there are still large gaps that require specialized efforts to fill. Many of these gaps lie within highly duplicated segments in which the degree of sequence variation among duplicated loci approaches levels of allelic variation. Many people assume that much of the sequence that is still missing from the reference assembly is not very biologically interesting. However, it has become increasingly apparent that the segmental duplications themselves provide the molecular basis for many human geneti...
Source: GenomeRef - May 4, 2012 Category: Genetics & Stem Cells Source Type: blogs
Genome Update: Representing variation in the LRC on chr. 19q13.4
Human GRCh37 patch release 5 includes eight NOVEL patches representing different haplotypes in the Leukocyte Receptor Complex (LRC) region on chromosome 19q13.4 (GL949746.1, GL949747.1, GL949748.1, GL949749.1, GL949750.1, GL949751.1, GL949752.1, GL949753.1). This region contains multiple clusters of genes belonging to the immunoglobulin superfamily, including killer immunoglobulin-like receptors (KIRs), leukocyte immunoglobulin-like receptors (LILRs) and leucocyte-associated immunoglobulin-like receptors (LAIRs). The LRC complex is of major importance in human disease across a wide context. Research efforts have f...
Source: GenomeRef - July 5, 2011 Category: Genetics & Stem Cells Source Type: blogs
Updating the genome: the CCL3L1 region of chr17q21
The CCL3L1 and CCL4L1 genes are found in a region of Human chromosome 17q12. These genes encode cytokines and the number of gene copies varies between individuals, with 0-4 copies in European individuals and 3-10 copies in African individuals. Copy number variations of these genes have been associated with various autoimmune diseases, possibly playing a role in rheumatoid arthritis susceptibility [PMID:17604289]. There are conflicting reports concerning how this region influences HIV infection and progression [PMID:15637236 and PMID:19812560].In the NCBI36 reference, this region was comprised of clones from different libra...
Source: GenomeRef - March 23, 2011 Category: Genetics & Stem Cells Source Type: blogs
