Clinical-grade whole-genome sequencing (cWGS) has the potential to become the standard of care within the clinic because of its breadth of coverage and lack of bias towards certain regions of the genome. Colorectal cancer presents a difficult treatment paradigm, with over 40% of patients presenting at diagnosis with metastatic disease. https://www.selleckchem.com/products/PI-103.html We hypothesised that cWGS coupled with 3' transcriptome analysis would give new insights into colorectal cancer. Patients underwent PCR-free whole-genome sequencing and alignment and variant calling using a standardised pipeline to output SNVs, indels, SVs and CNAs. Additional insights into the mutational signatures and tumour biology were gained by the use of 3' RNA-seq. Fifty-four patients were studied in total. Driver analysis identified the Wnt pathway gene APC as the only consistently mutated driver in colorectal cancer. Alterations in the PI3K/mTOR pathways were seen as previously observed in CRC. Multiple private CNAs, SVs and gene fusions were unique to individual tumours. Approximately 30% of patients had a tumour mutational burden of > 10 mutations/Mb of DNA, suggesting suitability for immunotherapy. Clinical whole-genome sequencing offers a potential avenue for the identification of private genomic variation that may confer sensitivity to targeted agents and offer patients new options for targeted therapies. Clinical whole-genome sequencing offers a potential avenue for the identification of private genomic variation that may confer sensitivity to targeted agents and offer patients new options for targeted therapies. Lichen planus is a rare autoimmune disease primarily affecting the skin and mucous membranes of the oral mucosa, vulva, and vagina. Diagnosis is difficult and often delayed as the clinicians do not associate the oral symptoms with the genital symptoms. This has a negative impact on the out-of-pocket expenditure and quality of life of the patients. We report this case, as only anecdotal cases have been reported so far from a developing country such as India. We highlight the unindicated hysterectomy that the patient had undergone because of lack of awareness regarding this condition. Our case report also highlights the importance of the multidisciplinary team approach to optimize outcomes and avoid unnecessary morbidity to such patients. We report a North-Indian patient with oro-vaginal-vulvar lichen planus who presented to us with complaints of recurrent vulvovaginal symptoms for the last 5 years. She had been previously treatedwith multiple courses of antibiotics, antifungals, and topical steroids over tars before an accurate diagnosis is made. Treatment is challenging and needs to be individualized with a multidisciplinary approach to prevent progressive anatomical distortion and associated morbidity. The FOXG1 gene plays a vital role in mammalian brain differentiation and development. Intra- and intergenic mutations resulting in loss of function or altered expression of the FOXG1 gene cause FOXG1 syndrome. The hallmarks of this syndrome are severe developmental delay with absent verbal language, post-natal growth restriction, post-natal microcephaly, and a recognizable movement disorder characterized by chorea and dystonia. Here we describe a case of a 7-year-old male patient found to have a de novo balanced translocation between chromosome 3 at band 3q14.1 and chromosome 14 at band 14q12 via G-banding chromosome and Fluorescence In Situ Hybridization (FISH) analyses. This rearrangement disrupts the proximity of FOXG1 to a previously described smallest region of deletion overlap (SRO), likely resulting in haploinsufficiency. This case adds to the growing body of literature implicating chromosomal structural variants in the manifestation of this disorder and highlights the vital role of cis-acting regulatory elements in the normal expression of this gene. Finally, we propose a protocol for reflex FISH analysis to improve diagnostic efficiency for patients with suspected FOXG1 syndrome. This case adds to the growing body of literature implicating chromosomal structural variants in the manifestation of this disorder and highlights the vital role of cis-acting regulatory elements in the normal expression of this gene. Finally, we propose a protocol for reflex FISH analysis to improve diagnostic efficiency for patients with suspected FOXG1 syndrome. The major purpose of this study was to determine the specific muscle(s) for superior sprint performance in sprinters. The cross sectional areas (CSAs) of ten muscles of the trunk and lower limb were measured using magnetic resonance images in 56 male sprinters and 40 male non-sprinters. In addition to the absolute CSA, to minimize the effect of difference in body size among participants, the relative CSA normalized to body mass was used for analysis of this study. Absolute and relative CSAs of most trunk and lower limb muscles, including the psoas major (PM) and gluteus maximus (GM), were significantly larger in sprinters than in non-sprinters (all P < 0.001, d = 0.91 to 1.82). The absolute and relative CSAs of the PM and GM correlated significantly with personal best 100-m sprint time in sprinters (r =  - 0.363 to - 0.388, all P < 0.01). A stepwise multiple regression analysis revealed that both CSAs of absolute PM and relative GM were predictive variables for the personal best 100m sprint time in sprinters (β =  - 0.289 and - 0.287, respectively, both P < 0.05). These findings suggest that the PM and GM may be specific muscles for superior sprint performance in sprinters. Absolute and relative CSAs of most trunk and lower limb muscles, including the psoas major (PM) and gluteus maximus (GM), were significantly larger in sprinters than in non-sprinters (all P  less then  0.001, d = 0.91 to 1.82). The absolute and relative CSAs of the PM and GM correlated significantly with personal best 100-m sprint time in sprinters (r =  - 0.363 to - 0.388, all P  less then  0.01). A stepwise multiple regression analysis revealed that both CSAs of absolute PM and relative GM were predictive variables for the personal best 100 m sprint time in sprinters (β =  - 0.289 and - 0.287, respectively, both P  less then  0.05). These findings suggest that the PM and GM may be specific muscles for superior sprint performance in sprinters.